Archive for the ‘Female Genetics’ Category

Joints are the bodys hardworking hinges. When healthy, they connect your bones and give you the range of motion you need to carry out daily activities. Women, though, are particularly vulnerable to joint pain, stiffness and frustration. In fact, the Centers for Disease Control and Prevention predicts that by 2040, two-thirds of arthritis (joint inflammation) sufferers will be female.

Experts point to a number of explanations for the disparity between men and women in arthritis. For starters, obesity is a major risk factor for osteoarthritis, and weight gain triggered by menopause can place stress on joints. Plus, hormones make womens' ligaments more lax, so they offer less support for joints at certain points in the menstrual cycle. Some research suggests that the angle of womens hips to their knees could make women more prone to anterior cruciate ligament (ACL) injuriesanother factor in osteoarthritis.

Womens immune systems seem to be more robust than mens, says Iris Navarro-Millan, M.D., an assistant professor of medicine at Weill Cornell Medicine and Hospital for Special Surgery. But this disease-fighting superpower could put immune systems into overdrive, leading them to misguidedly attack joints. As a result, women are also much more likely to have autoimmune-related joint conditions such as rheumatoid arthritis and lupus.

Fortunately, theres much you can do to keep your hinges happy. Exercise and maintaining a healthy weight are key. Regular activity keeps joints nourished and lubricated and strengthens the muscles and tendons that keep them stable and protected, says Kathy Weber, M.D. an assistant professor of sports medicine at Rush University Medical Center. And every extra 10 pounds you carry increases the load on your weight-bearing joints by 40 pounds.

In addition to straining joints, obesity can cause metabolic changes that promote pain and inflammation. But you dont need to lose a lot to make a big difference: Dropping just five to 10% of your body weight can reduce knee pain and significantly improve function. Read on for what may be causing your pain and more ways to ease it.

Over 30 conditions could be the culprit, and they fall into two categories: mechanical wear and tear injuries and inflammatory disorders. Heres more about two of the most common.

Injury, years of use, genetics or inflammation can spur the breakdown of bone-protecting cartilage. Think of it as like potholes developing in a road, says Dr. Weber. In this setting, the lining of the joint, the synovium, can become inflamed as well.

Symptoms: OA can affect numerous joints, but they may not all flare up with symptoms at the same time. Hips, knees, the spine, the base of the thumb and small hand joints tend to be common OA sites for women. Tenderness and stiffness in affected areas may develop gradually.

Diagnosis: Your doctor will conduct a physical exam and take X-rays or other images. They may order blood work to rule out other conditions.

Treatment: Because damaged cartilage does not regrow on its own, surgery may be an option, but the goal of treatment is usually to reduce pain and restore function. Dr. Weber often starts by prescribing regular exercise or referring patients for physical therapy to strengthen muscles that support joints.

A physical therapist can create an individualized exercise plan to help you feel and function better. Medications such as nonsteroidal anti-inflammatories (NSAIDs) can relieve symptoms too. Steroids and other substances may be injected to ease discomfort at the site of a flare. Joint replacement is usually a last resort, and more conservative measures should be tried first.

The immune system attacks the joints, eventually causing permanent damage. The joint lining becomes inflamed and produces factors that destroy the cartilage and bone, explains Ellen Gravallese, M.D., president of the American College of Rheumatology. RA can run in families, but lifestyle factors can set it in motion. In fact, if you have a genetic predisposition and you smoke, it can increase the chances of developing RA by as much as 40 times.

Symptoms: One hallmark of RA, Dr. Gravallese says, is that your joints feel stiffest first thing in the morning or after prolonged inactivity, and then after an hour of activity and movement, they generally begin to loosen and feel less painful. (In contrast, OA pain typically gets worse with strenuous activity). RA often first appears in the small joints of the hands and feet. They may be swollen, warm and red and flare up on both sides of the body at the same time. RA symptoms can also include whole-body issues like fatigue.

Diagnosis: Episodes can come and go and early symptoms can be subtle, which means RA sufferers may not know they have it for months or even years. If you experience unexplained joint issues, be proactive. The earlier the treatment, the better the outcomeask for a referral for a rheumatologist. Doctors will start with a detailed history and a physical exam. Blood work can help detect markers of inflammation and disease.

Treatment: The goal is to halt inflammation to prevent further damage to joints. One option may be biologics, a class of drugs that can help downshift the immune system. If you continue to have active disease, you can consult with your doctor to try a different strategy.

Though common, this condition is still poorly understoodits sufferers, primarily female, may be wired to be especially sensitive to their bodies pain signals. Symptoms include pain all over the body, along with muscle aches and fatigue as well as brain fog. Fortunately, this chronic condition doesnt cause lasting damage to joints.

This infection is caused by bacteria transmitted through tick bites. If left untreated, Lyme disease can cause severe joint pain and swelling, particularly in the knees and other large joints.

Signs of this autoimmune condition include joint pain and swelling, fatigue and sometimes a butterfly-shaped facial rash. Nine out of 10 sufferers are women.

Its said that when it comes to joints, motion is lotion. So what exercise is best? Anything you enjoy enough to stick with. Even running, once thought to be a fast path to developing arthritis, has gotten the ok. In fact, a recent study found that serious runners were at no greater risk for knee arthritis. Keep these tips in mind:

Warming up for a few minutes readies the joint and the muscles around it to reduce the chance of injury, says Dr. Weber. Dont just stretch in place warm up dynamically, she says. Walk for a few minutes before you pick it up to a jog. If you are just starting an exercise routine, build up slowly in intensity and duration.

Variety in activity strengthens different muscle sets and reduces your chances of an overuse injury. An ideal joint-boosting routine combines 150 minutes a week of moderate aerobic exercise such as fast walking or biking with a couple of sessions of strength training such as with free weights or resistance bands. Yoga is also a great optionit increases your flexibility and gives a natural energy boost.

Proprioception is awareness of where your body is in space, which can help you prevent joint injuries. To improve your proprioception, try standing on one leg followed by the other for a minute each while you brush your teeth every day.

Long sessions hunched in front of a computer are a recipe for stiffness. Take regular breaks to keep joints lubricated. Try setting a timer on your phone as a reminder. Then, every 30 minutes, walk around (or even march in place) for a bit.

If you do develop a joint condition, theres no reason you have to cease all activity. Your doctor or physical therapist can suggest gentle exercises such as using an elliptical trainer, biking, tai chi or water aerobics.

Original post:
The Science of Joint Health - What Causes Pain and How to Ease It - GoodHousekeeping.com

For Jill M. Goldstein, PhD, sex matters.

A professor of psychiatry and medicine at Harvard Medical School, Goldstein is passionate about the need to develop initiatives focused on sex and gender differences in disorders of the heart and brain. Ask her why and she doesn't hedge.

"Every cell has a sex," she said. "Every cell in a woman's body is different from every cell in a man's body. So we want to raise the awareness that sex is an important factor in disease outcomes."

Women are twice as likely as men to present with major depressive disorder (MDD) and have twice the rate of co-occurrence of MDD and cardiovascular disease, a phenomenon associated with three to five times' greater risk for death from cardiovascular disease. Globally, approximately 2 of every 3 people diagnosed with Alzheimer's disease dementia are women.

In a recent viewpoint article published in JAMA Psychiatry, Goldstein along with colleagues Ana Langer, MD, and Jill Lesser, JD describe the need for researchers and clinicians to focus on these differences, particularly with respect to the co-occurrence of MDD, cardiovascular disease, and Alzheimer's disease. Doing so, the authors believe, could help stem the tide of what they call this "multimorbidity crisis."

For Goldstein, the quest for sex and gender equality in medicine goes back at least three decades, when she first realized that sex differences were rarely considered, either in the lab or the clinic. Since then, she has dedicated a considerable part of her career to elucidating the differences between men and women in a variety of disorders, including MDD and its comorbidity with cardiometabolic diseases, psychoses, and the risk for dementia. She has published more than 170 articles, chapters, and other original and peer-reviewed works in these areas.

Despite her efforts, substantial gaps and barriers remain, particularly with respect to these particular conditions. For example, most animal studies in neuroscience and cardiovascular disease still use an overwhelming proportion of male samples; few systematic clinical studies have examined sex differences in the brain and heart in MDD.In mixed-sex trials of cardiovascular disease, only one third of participants are women, and only 25% to 33% of such studies report outcomes by sex. Even fewer studies including those of Alzheimer's disease, which disproportionately affects women are designed on the basis of sex.

"Women have been historically neglected in terms of attention," Langer, professor of the practice of public health at the Harvard T. H. Chan School of Public Health, Boston, Massachusetts, told Medscape Medical News.

Equally troubling for the authors is the fact that researchers tend to examine each of these diseases independently at a single point in time, rather than as co-occurrences throughout life. This approach, they write, prevents a complete understanding of the shared effects of psychological, biological, social, and environmental factors across organs and tissues over an individual's lifetime.

People with both depression and cardiovascular disease have a three- to fivefold increased risk of death from heart disease.... And those people are primarily women.

"People with both depression and cardiovascular disease have a three- to fivefold increased risk of death from heart disease," Goldstein explained. "And those people are primarily women."

Not everyone agrees with Goldstein, including Lise Eliot, PhD, professor and acting discipline chair of neuroscience at Rosalind Franklin University of Medicine and Science in North Chicago, Illinois.

"I've been very unimpressed with studies of human brain-sex differences," Eliot told Medscape Medical News, "because one can find a brain-sex difference that fits with any gender stereotype, particularly when it comes to psychiatric disorders. But these are all disorders that have gender-difference ratios. The paradox is that sex differences are relatively trivial compared to other sources of variance, like environment and genetics."

Eliot went on to explain that gender has played a far more important role in medical outcomes than has sex. "There is a lot of gender bias built into our medical system that is, I think, the basis for a lot of these health disparities," she said. "Psychiatric diagnoses are infused with the gender stereotype. And yet, the drive is to get money to study biologic differences."

Although the current state of sex-based research in co-occurring disorders of the heart and brain has a long way to go, there are signs of improvement. Goldstein herself has been integral to these changes throughout her career, though her biggest impact may have come in 2017, when she founded the Innovation Center on Sex Differences in Medicine (ICON). The center which boasts world-renowned experts from a variety of fields seeks to change the way the world understands heart-brain disorders using sex and gender lenses.

"We really want to try to change how medicine thinks," she said.

ICON's mandate recently took on new significance when the center was designated as a National Institutes of Health (NIH) Specialized Center of Research Excellence on Sex Differences. The NIH grant will fund both basic science and clinical studies of the developmental origins of sex differences in depression and the dysregulation of cardiac function efforts, Goldstein hopes, that will ultimately open the door to the development of sex-dependent therapeutic strategies

"We have a number of projects that we're working on," Goldstein said. "For example, we're developing a clinical risk tool to help predict men and women in early mid-life who might be at risk for Alzheimer's disease later on. But the key is, we're developing it in a sex-dependent way."

Her coauthors are equally involved in similar undertakings. Langer currently serves as the director of the Women and Health Initiative at the Harvard T. H. Chan School of Public Health. In that role, she heads an organization that seeks female-driven solutions to women's healthcare needs around the globe. She also serves as the director of global policies and programs for ICON.

"We look at the effect of policies and programs on the health of women and try to come up with ways to identify modifying factors that would allow us to improve the health of women through the life course," Langer explained.

Lesser, on the other hand, is the president of WomenAgainstAlzheimer's, a group that seeks to find, fund, and implement a cure for Alzheimer's disease with respect to the way the disease affects women.

There are other signs of progress as well. In 1993, the National Institutes of Health Revitalization Act was enacted. Part of that legislation mandates that women and minorities who had been largely overlooked to that point need to be included in sufficient numbers in clinical research to receive NIH funding. The policy was amended to its current form in 2017.

Important advances have also been made in cardiovascular medicine, with women's cardiac health centers becoming more commonplace across the country. For Goldstein, these changes were an important first step in addressing the health differences between women and men. "Heart disease is the number one killer of women in the US," she explained. "Nevertheless, women were getting into treatment later because their symptoms were not the same as the typical male symptoms. And they were dying as a result."

Multidisciplinary efforts for enhancing knowledge around sex differences will require cooperation between academics, industry, advocacy, and policy. Pharmaceutical companies, in particular, can play a big role in this revolution, the authors stress.

"The way it stands, pharmaceutical companies do not incorporate sex into the design of their studies," Goldstein said. "They may do a post hoc analysis to separate their data by sex, but that's not the same as testing a sex effect.

"Nevertheless, I believe there are many molecules sitting in companies' libraries that actually may be more effective in one sex than the other but were thought to be ineffective because the original studies were not designed by sex to test such differences," she added.

Despite the complexity of revamping the way an entire industry delivers its products and services, Goldstein and her colleagues believe the field of psychiatry is positioned to play an important role in the change, particularly with respect to the multimorbidity of MDD, cardiovascular disease, and Alzheimer's disease. Of these disorders, MDD is often the first to emerge.

"It's very important to understand the shared early origins of these three diseases so we can target them and try to prevent them down the road," Goldstein said. "For example, if we know that sex differences in depression emerge just after puberty and we also know that these differences will place a person at a higher risk for cardiovascular disease later in life, why are we not targeting them earlier?"

The same holds true for Alzheimer's disease. "If we know that hypertension and depression are major independent risk factors for Alzheimer's disease, why are we not targeting them as soon as possible?" she added.

Richard S. Isaacson, MD, director of the Alzheimer's Prevention Clinic at Weill Cornell Medicine in New York City, agrees that this kind of precision medicine is desperately needed when it comes to preventing Alzheimer's disease. "I think we've made tremendous progress in our understanding of how cardiovascular disease and Alzheimer's disease are in some ways inextricably linked," he said. "And I think physicians really have to understand the two are intertwined quite a bit.

"Nevertheless, we have to realize that people may look similar on the outside, but there's a lot of biologic and genetic differences on the inside," he continued. "Precision health is the future of medicine, and that's absolutely the case for Alzheimer's and cardiovascular disease prevention."

Isaacson explained that this understanding has helped shape the way he approaches patients. "In the Alzheimer's Prevention Clinic, I feel like I'm one third neurologist, one third preventive cardiologist, and one third primary care doctor," he said. "And I really believe that, because our panels for Alzheimer's prevention are the same ones that are used by my cardiologist colleagues."

Jordan Smoller, MD, ScD, professor of psychiatry at Harvard Medical School, agrees, yet he recognizes that one specialty cannot tackle the issue of multimorbidity alone. The movement needs financial partners, as well as a pipeline of trained professionals from a variety of fields who prioritize these issues throughout their careers.

Research will also be key, he says, from basic science to translational studies. "Then we need to see if we can actually leverage basic biology and clinical research to develop therapies that account for sex differences," he said. "That's a vitally important area, because it hasn't really happened in any area of medicine to date."

...one silver lining of the COVID-19 outbreak is that it seems to have increased recognition of the associations between sex, gender, and disease outcomes.

According to Smoller, one silver lining of the COVID-19 outbreak is that it seems to have increased recognition of the associations between sex, gender, and disease outcomes. Yet he feels the change may also be due to a confluence of science and culture.

"Often in medicine there's a convergence of factors that really elevate certain questions to become priorities," he explained. "One of them is advances in the science that allow them to be studied in a more fruitful way.

"At a societal level, it's always been controversial to what extent sex and gender play a role," he added. "But it's an issue that has now gathered more interest among a broader field."

"I think the devil is in the details when it comes to cardiovascular health and Alzheimer's disease coexistence," Isaacson added. "There needs to be a deeper dive and more collaborative efforts between preventive cardiologists, neurologists, psychiatrists, and endocrinologists. And we really need to work together to push the needle forward to truly have an impact."

"Things feel very different now than when I first started doing this," said Goldstein. "I think the context is different, and there's even a hunger for this from the public. I think we have a better chance of success now than ever before"

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In Disorders of the Heart and Brain, Does Sex Matter? - Medscape

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Meredith Legg Stapleton was was taking a shower one day when suddenly her left eye went dark, like a curtain falling. It was just a few months before her graduation from the University of South Carolina, Aiken, and Meredith, as a basketball star from Huntersville, North Carolina, knew that retinas could tear and thought hers might have. She was known as Mighty Warrior and Heavens Warrior, references to her athletic prowess and devout religious faith. She was on a scholarship and had the single-season record for consecutive free throws and her universitys all-time scoring record. But what happened in the shower threw her entire future into flux.

It was a point of no returnshed never regain sight in that eye. A visit to a local ophthalmologist on a Friday afternoon revealed a large tumor he suspected was ocular melanoma (OM). Meredith and her family then drove 13 hours that weekend to one of the leading OM treatment centers in the country: Wills Eye Hospital, which is part of Thomas Jefferson University Hospital in Philadelphia. Oncologists confirmed the suspected diagnosis. The optimal treatment? Remove her eye.

OM is an extremely rare and aggressive form of cancer; there are only about 2,500 cases each year in the United States. Doctors call it uveal melanoma, named after the uvea, a structure of the eye that contains the iris, the ciliary body that surrounds it, and the choroid, a vascular layer between the white of the eye and the retina. Melanoma cancers can start in any of these tissues, but the most dangerous and difficult to treat are in the ciliary body and choroid because tumors can grow invisibly there for years before detection. Thats where Merediths cancer appeared. Confined to the eye, OM doesnt kill. But half the time, the cancer spreads to the liver and, once it does, 80 percent of the cases are fatal within seven years, although the mortality rates vary. Some patients only survive five to 12 months after metastases; others have survived decades.

When Meredith heard the doctors recommendation, she announced that she had no intention of following orders, insisting she wanted them to do everything to save my eye. Merediths mother, Robin Legg, says, She was a take charge personality. She even read her own chart while awaiting her eye specialist. After further tests, the oncologist recommended radiation plaque therapy, a procedure that uses rice-size radioactive seeds contained within a gold or steel bowl (called a plaque) thats surgically implanted inside the eye socket for a week to deliver targeted radiation. Meredith slept 20 hours a day and described the pain as sticking an ice pick in the eye. A month later, wearing a patch over her left eye, she graduated cum laude with the class of 2009 and continued to work, volunteer coach, and play basketball.

Meredith Legg Stapleton and her father

Courtesy Robin Legg

While she was recovering from her treatment, Meredith got an unusual message. It was from Kenan Colbert Koll, a star swimmertwo years older than Meredithwho was also from Huntersville and attended the same school, Hopewell High School. Her note said that, despite the odds, she too had OM. Kenan first noticed blurry vision in her right eye in early 2009, two years after she had graduated from the University of North Carolina, Chapel Hill. She went to an eye doctor in Charlotte who prescribed glasses, but the problem continued. A few weeks later, she went to Duke University, where a specialist examined her and delivered the devastating news: a dangerously large OM tumor had lodged inside her eye. He offered the same recommendation for standard treatment: removing the eye. Kenan took one breath and commanded, Take it out! She had her eye removed at Duke, but, like Meredith, went to Wills Eye Hospital in Philadelphia for follow-up treatment once her cancer began to spread.

Meredith and Kenan became friends and collaborators, seeking new treatments and raising money for OM research. Meredith also coached Kenan on what to expect from her first appointment with Dr. Takami Sato, a medical oncologist at Wills Eye Hospital and one of the worlds top experts in OM treatment. At Wills, the doctors would give her an immunotherapy cocktail to knock back the cancer, Kenans father, Kenny Colbert, recalls, sitting in his family room near atabledominated by a wedding photo of Kenan, radiantly happy, wearing pearls and a ruched white dress. They would inject it in her femoral artery and if the tumors glowed it was working. Kenan brought her laptop into the treatment room each time intending to work, but shed just laugh and doze off, Kennysays. The next day shed get up and just go out and live her life.

Both young women did go out and live their lives.Kenan was married six months after her first eye surgery. The couple settled in Charleston and fixed up their first house while Kenan worked as an HR specialist at a flooring distributor. Meredith also married, in 2012, and even appeared on the reality TV show Say Yes to the Dress. She also appeared in Dear 16-Year-Old Me, a 2011 documentary on melanoma and the importance of early detection.

Kenan Colbert Koll with her father, Kenny.

Courtesy Sue Colbert

All the while, Meredith and Kenan also endured grim treatments and setbacks. They relied on their own little support group, continuing to swap insights about treatment and new information about the disease. Then, in late 2013, the support group grew: 19-year-old Summer Heath, another Hopewell High graduate, reached out to Meredith and Kenan through a friend on Facebook. Summer described the ordeal of blacking out from migraines in July 2013 and eventually losing sight in her right eye. A retinal specialist in Charlotte confirmed that she too had OM. When Summer and her parents consulted a local radiologist, he said he knew of two other girls from Hopewell High with the same disease. The three bonded immediately.

Well, it was weird: three girls from the same high school, and OM is an old mens disease and it doesnt happen to young girls, Summer recalls. We started talking and our families started talking andwe started to investigate.

By February 2014, Merediths cancer had spread. Thin and in pain, she nonetheless painted her nails Carolina blue with sparkles and put on a blue shawl to attend a UNCDuke basketball game with her husband and parents. Two days later she slipped into a coma. Two days after that, she died. She was 26 years old.

Kenan died four months later in May 2014just one month shy of her 29th birthday.

Summer was devastated. Its survivors guilt that I feel. My feeling was it should have been me, she says. Its been a really dark place to be, especially after Meredith and Kenan passed away. But soon, Summer recalls she found a reason to get through the guilt: two more young women in the Hopewell community who also had an OM diagnosis.

Meredith, Kenan, and Summer all lived within a few miles of each other in Huntersville, North Carolina, a suburb just north of Charlotte in Mecklenburg County; its one of the upscale communities dotting the 500 miles of shoreline surrounding Lake Norman.

Within the relatively young, prosperous population, news of Merediths and Kenans deaths spread fast in the summer of 2014. It turned out the young women werent isolated cases. By mid-2013 word was traveling on Facebook, and we started to pick up names of other young people [in our area] getting ocular melanoma, Kenny Colbert says. By August 2014, we had seven or eight names.

One of those names was Vicki Kerecman, who was diagnosed in 2011 in her early 30s. When Summer found her after both Meredith and Kenan had died, she says, Vicki was my sign not to give up, to continue the research. Then Summer found Courtney Benson, age 29, who got the same diagnosis that year. Neither of the women attended Hopewell High, but both lived within a few miles of the area.

By 2017, physicians would document a total of 18 OM cases among people who lived, worked, or spent time within a 15-mile radius of downtown Huntersville and northern Mecklenburg County. Nine of the first 12 victims identified would befemale, and sixwould be younger than 30. At least five would die from the disease. Today, depending on the vagaries of statistical reporting, patient disclosure, and spotty cancer registries, around two dozen people in the greater Mecklenburg and surrounding counties of Lake Norman in central North Carolina have been diagnosed with OM.

When Kenan was diagnosed we had never heard of ocular melanoma before, Colbert says. But then we heard about Summer Heath getting the disease, and then Courtney and Vicki. The research I pulled off the internet said the typical OM patient would be 50 years or older. It was off the charts for a female to get it. According to an oncology textbook, an excess risk of uveal melanoma has been reported in some studies in a variety of occupations such as welders, farmers, chemical workers, cooks, cleaners, and laundry workers, but there is no explanation for why. Clearly, young female athletes dont fit the demographic.

Summer Heath presented with a scholarship for Kenans Foundation by Kenny and Sue Colbert.

Courtesy Sue Colbert

Meanwhile, a similar mystery was unfolding in Auburn, Alabama, though this ocular melanoma outbreak appeared even more extensive. Juleigh Green, Ashley McCrary, Allyson Allred, and Lori Lee all attended Auburn University and three were sorority sisters in the late 1980s. Over the next 20 years, all implausibly developed OM. In 1999, when she was 27, Juleigh noticed bright flashes of light; she was diagnosed with OM in her left eye. At the time, she knew no one who had the cancer or could talk about it. Then in 2001, Allyson, then 31, also noticed bright flashes, and her doctor discovered a 10 mm OM tumor pressing on a detached retina. Both womens eyes were surgically removed. Then Ashley, whose husbands pet name for her was sweet eyes, discovered a spot on her iris in 2012. Her right eye was also taken.

Like Meredith, Kenan, and Summer, Ashley was treated at Wills Eye Hospital. When she described the crazy fact that she knew two other classmates with the exact same disease, Dr. Marlana Orloff, an ocular oncologist, was shocked. This isnt normal, Orloff told Ashley, noting that the Hopewell High School classmates had also come to Philadelphia for treatment. The fact that in two separate areas there were younger women who knew other young females with [OM] has really piqued our interest.

Summers mother, Janie Slusarick, had a similar experience when she accompanied her daughter on her first visit to Wills. When she told their doctor that three girls from the same high school had the same cancer, he froze. It was like a deer in the headlights, Slusarick recalls. The OM specialist noted that he was treating others with OM from Huntersville, along with a group of three women from Auburn, Alabama.

Dr. Miguel A. Materin, director of ophthalmic oncology and a specialist in radiation treatment of eye cancers at Duke Eye Center, also found the number and nature of cases concerning. Something is going on, but nobody knows the reasons, he says. Three girls from the same Huntersville High School? Thats not a coincidence. The same thing in Auburn, which may be even more interesting because of all these people who have some kind of relationship with the university there.

So why are all these young women contracting ocular melanoma? The question consumes victims and the OM community. Parents, desperate to discover anything in the environment that could explain what seems inexplicable, struggle to solve a medical mystery in which a tragic diagnosis is followed by questions, accusations, theories, the debunking of those theories, and, too frequently, death. Is it possible to discern a clue in the complicated mix of environmental hazards and genetics that has made these young women particularly vulnerable to disease?

OM is an illness that does not lend itself to clear causalities, like connecting cases of lung cancer to tobacco use. The rarity of the eye cancer has precluded deep studyand funding for research. Epidemiologists say its nearly impossible to nail a cancer like OM to a single risk factor. This is needle-in-the-haystack stuff: human genetics, immune systems, hormones, and environmental factors have complex interactions. One person exposed to chemical contaminants or high levels of radiation may never develop disease; others will. But that hasnt stopped efforts to try at least to narrow down areas of inquiry.

One key way to marshal support for research and treatment is to get whats known as a cancer cluster designation from the Centers for Disease Control and Prevention. The CDC designates a cancer cluster as a greater-than-expected number of cancer cases that occurs within a group of people in a geographic area over a period of time. With the designation, more public money and research power is made available to find out whats going on; without it, opportunities both to understand the causes and the treatments for the disease become more difficult. Nonetheless, for complex reasons that are both legal and scientific, its almost impossible to pass the threshold of an official cancer cluster designation.

The few success stories that garner public attention read like industry-busting detective stories initiated by rookies. The classic example is Erin Brockovichs now-famous 1990s investigations showing that hexavalent chromium in the town of Hinkley, California, was triggering various cancers. Her work resulted in a class action lawsuit and settlement of $333 million against Pacific Gas & Electric. Public health officials today cite other outstanding cases of cancer cluster discovery, but the singular, dramatic successes in which an investigation actually uncovers common triggers have centered almost exclusively on infectious disease outbreaks, like Legionnaires disease or the discovery of how mercury poisoning was caused by contaminated fish.

Communities across the country raise around 1,000 or more cancer cluster alarms each year, according to the CDC. For the designation of an official cluster, epidemiologists compare observed numbers of cases of specific cancers against case records of the same disease in a similar setting with a similar demographic group. At least thats the goal. But comparisons with similar groups may be over a much larger geographic area, like an entire state. The CDCs website acknowledges it is possible to create or obscure a cancer cluster by selection of a specific [geographic] area. Time comparisons may also be a crucial variable. The five ocular melanoma cases among young women with connections to Hopewell High School cropped up between 2009 through 2013, whereas North Carolina state epidemiologists compared those numbers to expected cases in the area over 20 years.

Chris Nidel, a health and chemical exposures attorney in Washington, DC, calls this practice dilution because statistical models can be used to skew results by comparing cancer or infectious disease outbreaks in a single town or zip code against countywide or several county populations over much longer periods. Diluting your population means youre unable to see change at the level youre wanting to see plainly in a town where people get sick, he says, especially because cluster isnt the answer youre looking for. The real issue is: Is there something causing disease in your community?

Then there are the challenges of investigations themselves. Many cluster investigations are launched without clear objectivesusually in response to general community distress, writes Dr. Michael Goodman, an Emory University epidemiologist, in the journal Critical Reviews in Toxicology. The undesirable result is that cluster investigations of cancers that appear to arise in a given geographic area or in a given community have rarely, if ever, resulted in important discoveries.

Its exceedingly difficult to get local authorities to test environmental factors, and, as a result,public health officials havent had much success in linking suspected cancer outbreaks with environmental causes. First, soil and water testing isnt required in many states, including North Carolina, unless the sites specifically require permits for pollutant discharge under state and federal law. The investigations are extraordinarily hard to do, said Catawba Riverkeeper Brandon Jones, a hydrologist. He lists a number of variables involving environmental factors as well as individual medical histories. These tests can very expensive, he noted, and you really do have to know what youre looking for.

The Clean Water Act requires the North Carolina Department of Environmental Quality to employ an Ambient Monitoring System whereby the state picks new sites every two years to look for water pollution, according to Jones. But there is no similar mandate for soil. Plus, there arent uniform regulations in either states or nationwide for testing for pollutants when townships build schools, neighborhoods, or commercial strips.

Making matters worse is a completely broken case tracking system. Public health officials rely on state cancer registries that are often incomplete and outdated. These registries do not track potential exposure to toxic sources, like polluted groundwater or dumping grounds for industrial waste. State cancer registries also typically use medical shorthand, documenting only the name and current address of the patient, as well as basic demographic information such as age, race, and gender. The tumor diagnosis is marked by code and staging (how far advanced the tumor is) along with initial treatment notes and where the patient lived when first diagnosed. Migration patterns of patients are almost never recorded. Registries dont include data on toxic exposure in a patients formative yearsseveral bad sunburns, say, or DDT sprays in the area. These flaws are evident with the Huntersville cases: Kenan and Meredith were counted only in a South Carolina registry, since that was where they were first diagnosed, even though they spent their high school years in Huntersville. Summer wasnt included in the North Carolina cancer registry when investigations took place in 2015 because her official data hadnt as yet caught up to registry databases.

National tracking is even worse for OM because of its comparative rarity. Other than an American Academy of Ophthalmology national registry, called the IRIS database, which records many kinds of ocular disease and their incidence rates, no national database has addressed ocular melanoma alone, although one has recently been created.

Even traditional methodology epidemiologists have relied on for their studies may be adding to the problem. In 2012, for example, MichaelGoodman, the Emory University epidemiologist, reviewed 428 cancer cluster investigations evaluating 567 suspected community outbreaks. Of those, only 72 clusters, or 13 percent, demonstrated an increased cancer incidence beyond what was expected for the community studied. Only three of the cluster investigations were actually linked, with variable degrees of certainty, to a hypothesized exposure to a specific environmental trigger, while only one investigation out of the 428 revealed a clear cause. With all this data, the limited results suggest that there may be a fundamental problem in how causality is framed, especially when it comes to identifying possible environmental triggers for health outcomes.

The challenges in cancer cluster designations have proved so daunting that Goodman and Judy S. LaKind, a professor of epidemiology at the University of Maryland Medical School, assembled a workshop to review past cases and offer new approaches. In a 2014 report, the researchers cited statistical problems such as small sample sizes, uncertain definitions of cluster boundaries and populations, and a failure to record the in-and-out migration from a suspicious area by patients. Too many cluster studies, they found, also use imprecise descriptions of both disease states and potential environmental factors. For example, public health officials might use the term brain cancer to describe a specific diagnosis such as glioblastoma. The term ground water contamination might be reported instead of the specific levels of trichloroethylene, chloroform, or dioxins. Some suspected clusters are just too small to calculate, with exposures to toxins by the community poorly defined or undefined. Then theres the pace of the disease, known as latency. Cancers develop over a long period of timeoften a decade or moremaking associations with suspected toxins much more difficult to prove.

Because of the way North Carolina public health officials counted victims in their studies, the Huntersville cases didnt reach an official cluster incidence level, according to a 2015 state public health report. The families were left grieving and infuriated. Emotions ran even higher when an official cancer cluster was determined in Mooresville, just a few miles north of Huntersville on Lake Norman, when thyroid tumors appeared in as many as 260 local victims, most of them young women and teens as young as 13.The aggregate burden of investigating both outbreaks has produced community anger and cries for help from state legislators. To many residents, Lake Norman has become a cancer alley with too many industrial contaminants and too few public health resources to investigate and find answers.

The numbers just dont make sense, says Rob Kidwell, the father of a school-aged daughter in Huntersville. These are rare cancers that shouldnt be popping up and no one seems concerned.

Kenan Colbert Koll

Courtesy Sue Colbert

Meredith Legg Stapleton

Courtesy Robin Legg

When I meet with Kenan Colbert Kolls parents, Sue and Kenny Colbert, at their Georgian-style retreat tucked away in a verdant Huntersville neighborhood, were joined by Scot and Janie Slusarick and their daughter, SummerHeath. Its June 2018, and Summer, 24 years old and teaching second grade, is about to celebrate five years of surviving OM. Summer has a blog, Cupcake v Cancer, where she shares what has been happening to her. Entries about her care, like one from last yearI think the treatment is working though. The tumors on my head have been shrinking. That is an amazing reassuring sign that we are headed in the right direction!!are mixed with photographs of friendsand trips to Disney World. When Summer speaks, she expresses both sadness and a fierce will to live.

By that June, Summer had already made 23 trips to Philadelphia for plaque therapy, biopsies, painful injections, and lasers to destroy her tumor. Months of radiation were followed by a laser to kill any cells left, then a series of injections to stop macular swelling, followed again by laser treatment in 2016 to halt hemorrhaging in her eye, which had lost all vision. Our casesMerediths, Kenans, and mineare so similar, theres a bond there, she says. Its been hard on her family; her medical insurance had paid only a fraction of her bills. But it helped when her friends gave her hotel points so she and her family could stay in Philadelphia as an outpatient for the first 10-day course of treatment.

The Colberts and Slusaricks listen as she speaks before describing their arduous four-year journey of false hopes and dead ends as they tried to get local and state officials to take environmental testing seriously. In 2014, Scot Slusarick thought that one obviouscommon denominator was location: Three of the girls with OM attended Hopewell High and two young women in their 30s lived within a mile nearby. He lobbied public health and school officials for a physical sampling of the Hopewell High water, soil, radiation sources, and air, but officials declined his requests.

At the same time, Kenny Colbert was prodding the Mecklenburg County Health Department to initiate a cancer cluster study. In March 2014, just months before Kenan died, Colbert connected with the county health director, Dr. Marcus Plescia, who phoned OM victims, families, and school officials, asking questions about potential toxic exposures and lifestyles, like work as lifeguards, sunburns, a history of smoking, or use of artificial tanning beds. Nothing suspicious was found, according to the county health department office.

While the county inquiry stalled, Colbert enlisted Huntersville Township Commissioner Danny Phillips and former Commissioner Rob Kidwell, as well as his wifein his search for answers. The Kidwells, like Slusarick, pressed hard for physical tests of the air, water, building materials, and soil at Hopewell High. They also tried to survey the townships nearby to establish baseline pollution data, but there was no consensus on how to proceed, Kidwell recalls. The state said it was a county issue; the county said it was a state issue, and nothing got done,Colbert says. Eventually state epidemiologists told Colbert that five cases in your area over the last 20 years was normal. We have five people within a one-mile area right now, he countered, referencing Meredith and Kenan, who had already died, plus Summer, Vicki, and Courtney. The state said, We dont know about these five people. Theres no central registry.

But Colbert worked to bring attention to the cause in other ways. He called local TV reporter Jim Bradley, who started looking at whether state and county health officials acknowledged a potential problem. His first report aired in November 2014, and soon other Lake Norman community members claimed an OM diagnosis. Word started traveling and soon we had about 25 names within six to seven miles, Colbert reports. Following that publicity, in late September 2015, the Colberts, Slusaricks, and other members of the Huntersville community participated in a Lookin for a Cure 5K walk/run to benefit Dr. Takami Sato, director of the uveal melanoma treatment program at Wills Eye Hospital. Dr. Sato showed up at the Huntersville run, along with his son and Dr. Marlana Orloff, who had treated both the Huntersville and Auburn women. About 1,000 people participated in the event, which raised more than $55,000.

Beyond fundraising, the run proved crucial for another reason: Dr. Randall W. Williams, the deputy secretary of health services at North Carolinas Health and Human Services, was there. Williams had spoken with Colbert and decided he needed a clinical liaison to speak to OM parents in Lake Norman. The plan was to organize a consortium of Duke, Thomas Jefferson, and UNC, Chapel Hill, experts to figure out next steps for an exploratory study.

Williams selected Dr. Mike Brennan, a retired eye surgeon and colleague of his whod done overseas medical work in Iraq, Libya, and Afghanistan. Randall called me about OM in Huntersville, says Brennan, who is also the former president of the American Academy of Ophthalmology, and he said, You know how to do ocular politics, can you help me? At the time, Brennan admitted he didnt know much about the Huntersville cases, but he agreed to sign on and organize a local registry of the Lake Norman OM patients. He told Williams the consortium should coordinate genetic testing of victims and, possibly, an environmental study of Huntersville.

As Brennan started contacting patients in late 2015, he found that patients were scattered in and around the counties surrounding Lake Norman. He almost immediately found at least three more young people in Huntersville and nearby Concord and Lincolnton, all near Lake Norman, who had reported the disease in the same timeframe, along with two older patients. But the process hit some snags: Some patients had privacy concerns and didnt want to be included in the registry. Counting cases was also difficult because there were people who were diagnosed before 2000, or their geography was wrong, or they were transients, Brennan says. But, he adds, the [patient] population grew as social media and the press publicized this. In the end, Brennan documented at least two dozen OM patients for his Lake Norman registry, although a few were excluded because their time and place of diagnosis didnt fit standard epidemiological requirements. UNC, Chapel Hill, found two more patients, one from Huntersville and another from Rock Hill, South Carolina, who had worked in Huntersville for five years. One of the last patients to be registered was Jessica Boesmiller, a mother in her late 30s whose OM was detected in late 2017, just weeks before delivering twins.

Meanwhile, officials at the North Carolina Department of Public Healths Occupational and Environmental Epidemiology Branch (OEEB) published a report in June 2015 on the OM cases. It concluded that other Lake Norman cases were random, albeit tragic, events. According to Kelly Haight Connor, a spokesperson for the state health department, An analysis of NC Central Cancer Registry (CCR) data in 2015 did not find a higher-than-expected number of ocular melanoma cases in Mecklenburg County, Huntersville or Huntersville/Cornelius from 20002013. (Physicians and epidemiologists from the state health department declined to be interviewed.) When the findings began to circulate, Huntersville parents were outraged.

Janie Slusarick called the OEEB report naive and embarrassing. There are two to three times the numbers of people affected here and the state report doesnt count them, she says. From my perspective, Brennan adds, I could tell that for good reasons, the community and parents had reason to expect more to be done.

The Slusaricks continued to press for environmental testing of the school. In 2016, facing pressure from the Huntersville community, the school system finally agreed to a first investigation of construction records and a visual inspection of Hopewell High School grounds by Hart & Hickman, a Charlotte-based environmental consulting firm. Nothing unusual was detected, and did H&H didnt recommend any soil or water tests for contamination, arguing its own chemical records search showed no single link to OM.

Scot Slusarick then pressed Charlotte-Mecklenburg facilities management to evaluate Hopewell Highs tons of imported fill dirt and building materials, but the department claimed that supervisors had already reviewed construction records when the high school was built in 2001. What about the paint? The ceilings? The lighting? he asked. Their entire investigation was a phone call. Janie pointed out that the area historically had copper mines and water tributaries running from them. She also noted that a mile and a half from school was a Piedmont liquefied natural gas storage facility, which could possibly be emitting harmful electrical pollutionsometimes known as dirty electricity. That too should have been evaluated, she says.

While environmental testing was stalled, Brennan believed that genetic testing might yield important clues. He coordinated a test of local victims to determine if anyone had the BAP1 gene mutation, a protein abnormality frequently associated with eye, skin, and kidney cancers. But all tests were negative. Even after experts from Columbia University, the New York Genome Center, and the University of Miamis Bascom Palmer Eye Institute participated in tumor tissue testing of six North Carolina patients, there was no smoking gun.

Another option was geospatial testing, which links patient activity and remembered traffic patterns with repeated exposure to toxic environmental sources such as radiation or air and water pollution. In 2017, Huntersville Township funded a study by an environmental consulting firm,Geodesy Inc., which specializes in geospatial testing. The remembered whereabouts and daily traffic patterns from 2000 to 2017 of 11 female and four male OM patients living within the Huntersville ZIP code was mapped and then correlated with township records that revealed various hot spots in Northern Mecklenburg County: an asbestos dumping site at Davidson Depot; a dry cleaning solvent clean-up site in Huntersville; several active hazardous waste storage facilities in the north; contaminated industrial sites in both Cornelius and Huntersville. It also showed the presence of polychlorinated biphenyls in Lake Norman, which provides public drinking water to Huntersville, and a concentration of high-tension power lines, cell towers, and power-generating stations in the vicinity.

The report stated, Without important clues, additional measures of air, soil, or water is not warranted. Still, Geodesy report director John Cassels called for further analysis of multiple sources, including Lake Norman public water. Both coal ash and nuclear radioactivity are common sources of pollution across all modern towns in the US, and coal ash often appears in water suppliesincluding Lake Norman. Avner Vengosh, a professor of earth and ocean sciences at Duke Universitys Nicholas School of the Environment, has in fact documented coal-ash effluent in all the major lakes and streams connected to coal-fired power plants throughout North Carolina, including Lake Norman. But he notes that because of the lakes gargantuan size, dilution is large and the impact is small. Municipal water quality tests of the lake have not shown hazardous levels of any coal-ash chemicals or radioactivity.

Despite missing a clear culprit, Geodesy Incs director, John Cassells, admitshe was a little bit alarmed at some of the things their investigation found. Duke Energy, for example, had an unplanned release in 2008 of the hydrogen isotope tritium from its McGuire Nuclear Station near Huntersville,which amountedto 140,000 gallons of tritium-tainted waterflowing into Lake Norman.

While tritium is a radioactive compound found in nuclear reactors, Duke has regulatory permission to release tritium and other effluents into the Catawba River, which flows into Lake Norman. The unplanned leak, a Duke spokesperson wrote in an email, did not impact public or employee health and safety. Duke Energys director of government affairs, energy and the environment, Mark McIntire, says that tritium isnt dangerous in low doses and that Duke strictly follows toxicity-based standards for water quality established by EPA and North Carolinas Department of Environmental Quality. Bill Norton, a spokesperson from Duke Energy tells me, We have environmental discharge limits and have to report all that data to the nuclear regulatory commissionsThe Lake Norman water quality remains very good. In a later conversation he adds, Decades of environmental data at drinking water intakes show no impacts from our operations.

Tritium concentrations in Lake Norman remain below federal limits. Duke notes the calculated radiological impact of that leak on an individual was equivalent to .00005 milliremor just 1/10,000th of a dental X-ray. But Cassels is still concerned. There are several drinking water intakes downstream [from the McGuire Station] and no way to clear these compounds, he says. Even low concentrations of tritium may be more important in cancer than we originally thought.

There are some reasons for hope: The efforts to achieve a national and international registry of OM cases are rapidly coming to fruition. The Melanoma Research Foundation has created a new kind of patient-centric registry that will help disease detectives track the natural history of eye melanomas, including environmental risk patterns, treatments, and recovery. Dr. Sara Selig, a physician who directs Cure OM, the Melanoma Research Foundation initiative, explains, Whats hindered the research into some of these unique populations in the past is that you know someone who may have lived in one area and been diagnosed somewhere else, and theres not a single repository catching this information. Whats the unique factor? The person. She says that instead of the standard clinical data provided by physicians, a new repository will allow patients to enter remembered environmental exposure data, migration patterns, family histories, and responses to treatment across the lifecycle of the disease.

Academic researchers hope to find clues to OM causes in these records and in victims genomes. At Columbia Universitys Irving Medical Center, Dr. Richard Carvajal, a director of experimental therapeutics, is conducting a whole genome sequencing study of both the North Carolina and Alabama OM patients, examining tumor tissue for patterns of genetic damage. There are about 30 DNA damage signatures that have been characterized, and are pretty well accepted, says Dr. William Harbour, a consultant on the project and a genetics researcher at University of Miamis Bascom Palmer Eye Institute. Harbour is optimistic; a genetic pattern may narrow down environmental causes and point to one or more smoking guns. Theres a lot of reasons to think this eye cancer isnt coincidental, he says. Some people are concerned with legal implications, and maybe they dont want to find [the answers]. But from a government standpoint, your best bet is to show youve made every reasonable effort to find the cause.

Even though the Huntersville community search for an OM cause seemed inconclusive, there is movement on attempts to get to the bottom of the Alabama cases. In August 2018, Auburn University also engaged Geodesy Inc. for a geospatial investigation. According to Cassels, the work has been delayed because of the coronavirus pandemic, but it could still turn up some promising data. The geospatial analysis will dig into genetic, lifestyle, or environmental causes of the disease in the Auburn community. It will focus on the 25 surviving patients out of the 31 who were confirmed to have the disease and affiliated with the school from 1980 to 2019.

Ashley McCrary, the Auburn grad who was diagnosed with OM in 2012, says, The geospatial engineer is going to come in and ask a thousand questions to everybody [regarding remembered whereabouts, exposures, and life style habits] and pray that people will send the information back. Dr. John Mason, a retinal specialist based in Birmingham who treats many of the Auburn patients, is optimistic that this study, which includes more patients and looks at a longer time frame than past research, will also yield important clues.

Still, the Colberts and Slusaricks remain haunted by the painful question: How can public health officials be fully aware of these cancer outbreaks andnot know what to do? Back when Kenan was still alive, Kenny Colbert wanted to get the community riled up, to change the attitude of public health officials who seemed not to want to look more carefully at a problem that could make other young people sick. We needed to get people mad and scared about this, he says. We decided we should get some people embarrassed about this, about doing nothing or passing the buck.

The battle also continues forpatients like Summer Heath and Jessica Boesmiller, the young woman whose cancer was discovered just before she delivered twins.Summer shuttles back and forth to Wills Eye, as well as to Duke, for treatments, now for brain and spinal tumors. But she still keeps her blog. She still teaches second grade at Langtree Charter Academy Elementary School. And she recently celebrated seven years of survival since her diagnosis, as well as her 26th birthday.

Jessica also regularly travels to Wills, in between the demands of raising her four kids, to treat the cancer that has metastasized to her spine and liver. She reflects on her experience from two perspectives: first, as a fierce advocate for changing the usual approaches to understanding the cause of this devastating disease. Everyone investigating ocular melanoma is too worried about liability to say what the cause could be without [assembling] clear evidence, she says. But I want full disclosurefull access and open testing of the environment. If the old ways of finding out whats wrong dont work, find a new way. This cluster is just too coincidental to be a coincidence.

At the same time, Jessica has the perspective of a young woman, a daughter, a wife, and a mother whose life has been unalterably changed and defined by her battle with OM. People ask how I feel and its difficult to express sometimes. My family sees the pain and lack of energy and physical strength. They see the tiredness and nausea. They miss the old me, Jessica says, and I really do.

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One Case of a Rare Eye Cancer Was Weird. When 4 More Appeared, the Town Knew Something Wasn't Right. - Mother Jones

In the midst of a pandemic that has brought so much worry and loss, its natural to want to helpto do some small part to solve a problem, to counter pain, or to, importantly, remind others that there is beauty and wonder in the world. Scientists have long been doing just that. Many are chasing answers to the myriad challenges that people face every day, and revealing the rewards in the pursuit of knowledge itself. Its in that spirit that we present this years SN 10: Scientists to Watch.

For the sixth consecutive year, Science News is featuring 10 early- and mid-career scientists who are pushing the boundaries of scientific inquiry. Some of the researchers are asking questions with huge societal importance: How do we prevent teen suicide? What are the ingredients in wildfire smoke that are damaging to health? Is there a better way to monitor earthquakes to save lives? What about finding new ways to diagnose and treat diseases?

Others are trying to grasp how weird and wonderful the natural world isfrom exploring how many supermassive black holes are out there in space to understanding the minuscule genetic details that drive evolution. For instance, SaraH Zanders, one of this years SN10, is unveiling the drama that unfolds when life divvies up its genetic material.

A couple of the scientists on this years list have also taken steps to support people from groups that are underrepresented in the sciences. These researchers see how science benefits when people from diverse backgrounds contribute to the pursuit of answers.

Headlines and summaries of the latest Science News articles, delivered to your inbox

All of this years honorees are age 40 and under, and all were nominated by Nobel laureates, recently elected members of the U.S. National Academy of Sciences or previous SN 10 scientists. The world feels very different than it did at the start of 2020, when we first put out our call for SN 10 nominations, but the passion these scientists have for their work endures. The curiosity, creativity and drive of this crew offers hope that we can overcome some of our biggest challenges.

Though it often takes time, out of crisis comes action. Also out of crisis comes a renewed appreciation for small pleasures that give life meaning. These researchers find joy in the search for scientific answers. Heres how Zanders describes what motivates her work: Its just I like to solve puzzles. ElizabethQuill

Affiliation: Dartmouth CollegeHometown: Dhaka, BangladeshFavorite black hole: Cygnus X-1

Tonima Tasnim Ananna is bringing the heaviest black holes out of hiding. She has drawn the most complete picture yet of black holes across the universe where they are, how they grow and how they affect their environments. And she did it with the help of artificial intelligence.

As far as astronomers can tell, nearly every galaxy stows a black hole at its center, weighing millions or billions of times the mass of the sun. Though these supermassive black holes can heat surrounding material until it glows brighter than all the galaxys stars combined, the light can be concealed by gas and dust also drawn in by the black holes pull. High-energy X-rays cut through that dusty veil. So for her Ph.D., completed in 2019, Ananna gathered surveys from four X-ray telescopes, more datasets than any previous study had used. Her goal was to create a model of how black holes grow and change across cosmic history. It was supposed to be a short paper, Ananna says. But models that explained one or a few of the datasets didnt work for the full sample. It stumped us for some time.

To break the gridlock, she developed a neural network, a type of artificial intelligence, to find a description of the black hole population that explained what all the observatories saw. She just went off and taught herself machine learning, says astrophysicist Meg Urry of Yale University, Anannas Ph.D. adviser. She doesnt say, Oh, I cant do this. She just figures out a way to learn it and do it. One early result of the model suggests that there are many more active black holes out there than previously realized.

Black holes could be gobbling down gas as fast as theoretically possible.

Galaxies live and die by their black holes. When a black hole puts out energy into the galaxy, it can cause stars to form, Ananna says. Or it could blow gas away, shutting down star formation and stunting the galaxys growth (SN: 3/31/20). So understanding black holes is key to understanding how cosmic structures everything from galaxy clusters down to planets and perhaps even life came to be. Anannas model is built on data describing black holes at different cosmic distances. Because looking far in space is like looking back in time, the model shows how black holes grow and change over time. It could also help figure out how efficiently black holes eat. Early hints suggest black holes could be gobbling down gas as fast as theoretically possible, which may help explain how some got so big so fast (SN: 3/16/18).

When Ananna was a 5-year-old in Dhaka, Bangladesh, her mother told her about the Pathfinder spacecraft landing on Mars. Her mother was a homemaker, she says, but was curious about science and encouraged Anannas curiosity, too. Thats when I realized there were other worlds, she says. Thats when I wanted to study astronomy. There were not a lot of opportunities to study space in Bangladesh, so she came to the United States for undergrad, attending Bryn Mawr College in Pennsylvania. She chose an all-womens school not known for a lot of drinking to reassure her parents that she was not going abroad to party. Although Ananna intended to keep her head down and study, she was surprised by the social opportunities she found. The women at Bryn Mawr were fiercely feminist, articulate, opinionated and independent, she says. It really helped me grow a lot. Traveling for internships at NASA and CERN, the European particle physics laboratory near Geneva, and a year at the University of Cambridge, boosted her confidence. (She did end up going to some parties no alcohol for me, though.)

Now, Ananna is giving back. She cofounded Wi-STEM (pronounced wisdom), a mentorship network for girls and young women who are interested in science. She and four other Bangladeshi scientists who studied in the United States mentor a group of 20 female high school and college students in Bangladesh, helping them find paths to pursue science. LisaGrossman

Affiliation: Texas Tech UniversityHometown: Rome, ItalyFavorite telescope: Very Large Array, New Mexico

On September 3, 2017, Alessandra Corsi finally saw what she had been waiting for since mid-August: a small dot in her telescope images that was the radio afterglow of a neutron star collision. That stellar clash, discovered by the Advanced Laser Interferometer Gravitational-Wave Observatory team, or LIGO, which included Corsi, was the first direct sighting of a neutron star collision (SN: 10/16/17). The event, dubbed GW170817, was also the first of any kind seen in both gravitational waves and light waves.

Telescopes around the world spotted all kinds of light from the crash site, but one particular kind, the radio waves, took their sweet time showing up. Corsi had been waiting since August17, when the gravitational waves were spotted. Longest two weeks of my life, Corsi says. The radio waves were key to understanding a superfast particle jet launched by the colliding stars.

Early on, the jet appeared to have been smothered by a plume of debris from the collision (SN: 12/20/17). But follow-up radio observations made by Corsis team and others confirmed that the jet had punched through the wreckage (SN: 2/22/19). This jet was the first of its kind to be seen from the side, allowing Corsi and colleagues to probe its structure. The jet almost certainly would have gone unnoticed if the gravitational waves hadnt clued astronomers in.

Corsi is a pioneer in the new field of multimessenger astronomy, which pairs observations of light waves with spacetime ripples, or gravitational waves. The pairing is like having eyes and ears on the cosmos, Corsi says. You cannot learn all that you could with only one of the two. In the case of GW170817, gravitational waves revealed how the neutron stars danced around each other as they spiraled toward collision, and light waves unveiled the type of material left in the aftermath (SN: 10/23/19). Using this multimessenger approach could also give astronomers a more complete picture of other cataclysms, such as smashups between neutron stars and black holes, and the explosive deaths of massive stars. Such spectacular events reveal some of the most fundamental physics in our universe, Corsi says.

If gravitational wave signals were converted into sound, they would create their own kind of music.

Most researchers specialize in either gravitational waves or light, but Corsi is very well-versed in both messengers, says Wen-fai Fong, an astrophysicist at Northwestern University in Evanston, Ill. That makes her extremely versatile in terms of the types of multimessenger science she can study.

Corsi has now built a computational tool to scan LIGO data for gravitational waves stirred up by whatever is left behind in a neutron star merger. The tool is based on a paper she published in 2009 years before LIGO scored its first gravitational wave detection (SN: 2/11/16). The paper describes the gravitational wave pattern that would signal the presence of one possible remnant: a rapidly spinning, elongated neutron star. Alternatively, a neutron star smashup could leave behind a black hole. Knowing which tells us a lot about how matter behaves at densities way higher than we could ever explore in a lab, Corsi says.

Corsi taught herself to play the piano in high school, and now enjoys playing both classical music and tunes from favorite childhood movies, like Beauty and the Beast. The audio frequencies of piano notes are similar to the frequencies of spacetime tremors picked up by LIGO. If gravitational wave signals were converted into sound, they would create their own kind of music. Thats the thing I like to think of when Im playing, she says. MariaTemming

Affiliation: Colorado State UniversityHometown: Richmond, R.I.Favorite outdoor activities: Cross-country skiing and gardening

Emily Fischer has always cared about air pollution. Its innate. Its a calling, she says. Exposure to air pollution raises your risk for many common ailments, such as cardiovascular disease, asthma, diabetes and obesity. But unlike some other risk factors for these diseases, you cant choose not to breathe, right? You have to have clean air for everyone. In her youth, she organized rallies to clean up the cigarette smokefilled air of her Rhode Island high school. That interest led Fischer to study atmospheric chemistry and motivates her current work as a self-described air pollution detective. Air pollution may conjure images of thick black plumes billowing from smokestacks, but Fischer says most air pollution is invisible and poorly understood. She combines analytical chemistry with high-flying techniques to understand where air pollution comes from and how it changes as it moves through the air.

Wildfire smoke like that filling the skies in the American West this season is a major, but still mysterious, source of air pollution. Thousands of different solids, liquids and gases swirl together to form wildfire smoke, and its chemical composition changes as it blows through the atmosphere. This dynamic mixture, which is also affected by whats burning on the ground, is tricky to measure, since each of its many components requires highly specialized equipment and expertise to assess. The equipment also has to be airborne, typically lofted into the air via planes or balloons. There has been beautiful work on wildfire smoke, Fischer says, but in most studies, we just have not had all the measurements needed to really interpret things.

You cant choose not to breathe, right? You have to have clean air for everyone.

To get a fuller view, she dreamed big: Why not try to measure everything, and measure it systematically? She pulled together a diverse team of 10 lead researchers, and scores more graduate students and postdocs, to pull off the most comprehensive analysis of wildfire smoke ever attempted, a project dubbed WE-CAN. During the summer of 2018, Fischer led over a dozen six-hour flights over the West, chasing wildfire smoke plumes and systematically measuring the air in and around smoke plumes with nearly 30 different instruments crammed into the cargo hold of a C-130 plane.

[WE-CAN] is a big collaboration, says Ronald Cohen, an atmospheric chemist at the University of California, Berkeley. He says success stemmed in large part from the team that came together.

Making an environment for successful collaboration is really satisfying to me, Fischer says.

While team members are still analyzing the data, the project is already revealing some of the smokes secrets. For example, formaldehyde and hydrogen cyanide two chemicals linked to cancer and other health problems are abundant in wildfire smoke. Recent wildfires show how important it is to understand the role of climate change in fires, Fischer says, and who is most vulnerable in our society, and how we can best prepare and protect those communities.

Fisher is also planning to adapt some of what shes learned from WE-CAN to track ammonia emissions from farms and feed lots, which are another major source of air pollution.

Fischer is deeply committed to bringing more undergraduate women, especially women of color, into the geosciences. And shes using science to figure out how. She brought a team of social scientists and geoscientists together to study how different interventions can help. She and colleagues found that for every female role model a student has, her probability of continuing on in her geosciences major roughly doubles. Having someone to look up to who looks like them is key to building a sense of belonging and identity as a scientist, Fischer says. To help build that network, Fischer started PROGRESS, a workshop and mentorship program that aims to support undergraduate women in the geosciences. Started at Colorado State University in 2014, the program has since expanded, reaching over 300 women at institutions across the United States.

For her own mentees, Fischer tries to instill a willingness to take risks and go after big, bold questions. The easy things are done, she says. Pushing forward our understanding of pressing questions means chasing research projects that might lead nowhere, she says, or might crack open a new field of research. Its OK to be wrong, and its OK to take risks. Thats what science needs right now. JonathanLambert

Affiliation: University of Illinois at Urbana-ChampaignHometown: Mumbai, IndiaFavorite element:Gold

Prashant Jain explores how light interacts with matter such as how plants use sunlight to photosynthesize and applies that knowledge to new problems. He recently took lessons from nature to convert carbon dioxide into other useful molecules. In a paper last year in Nature Communications, Jain and Sungju Yu, also at Illinois at the time, reported using gold nanoparticles as a catalyst to drive chemical reactions between carbon dioxide and water.

When light hit the nanoparticles, it set off a series of reactions that converted carbon dioxide into hydrocarbon fuels such as methane and propane. In essence, the process not only sucked carbon dioxide a greenhouse gas out of the air, but it also made that carbon into fuel. No wonder the oil giant Shell is funding Jains work. The whole process isnt very efficient, so Jain is working to improve how much carbon dioxide gets used and how much fuel gets produced. But along the way he hopes to learn more about how nature uses energy to make matter and to inspire his lab to create more sustainable and renewable energy technologies.

I am myself still a student.

In another example of using chemistry to push toward future technologies, Jain and colleagues shined light on gold and platinum nanoparticles and triggered reactions that liberated hydrogen from ammonia molecules. Hydrogen is important in many industries fuel cells for zero-carbon vehicles use it, for example but it can be dangerous to transport because its flammable. Jains discovery could allow workers to transport ammonia instead, which is safer, and then free the hydrogen from the ammonia once it has arrived wheres it needed. The work was reported online in July in Angewandte Chemie.

Jain has a remarkable ability and optimism to see unsuccessful laboratory experiments as successful steps toward understanding the natural world, says Karthish Manthiram, a chemical engineer at MIT. As a first-year graduate student at the University of California, Berkeley, Manthiram remembers being frustrated that his experiments werent turning out as expected. But Jain, a postdoctoral fellow in the same lab, stepped in to helpand recast the problematic results. Hes always viewed what others see as failure as moments of clarity that build up to moments when things make more sense, Manthiram says. For me that was an important lesson in how to be a scientist.

Growing up in a family that worked mostly in business and finance, Jain fell in love with science as a preteen inspired in part by watching the movie Jurassic Park and its fictional depiction of what might be possible through understanding the molecular world. Soon he spotted a physics textbook for sale from a street vendor and bought it. I tried to read the book, nothing much made sense, he says. I wanted to be the one to figure out all these mysteries of nature. He chose to major in chemical engineering in college (inspired in part by a magazine published by the chemical company DuPont), and then switched to physical chemistry when he moved to the United States to get a Ph.D.

Promoted this year to full professor, Jain has never stopped pushing to acquire new knowledge; when he finished teaching this last spring semester, he enrolled in an online MIT course on quantum information science. I am myself still a student, he says. AlexandraWitze

Affiliation: Indiana UniversityHometown: Houston, TexasFavorite fieldwork: Observing rituals

Between 2000 and 2015, at a high school of about 2,000 students in the town of Poplar Grove (a pseudonym), 16 former and current students died by suicide; three other similar-aged individuals in the community, mostly at private schools, also took their own lives. A clinician who had grown up in the town reached out to Anna Mueller for help breaking the cruel cycle. Before that e-mail in fall 2013, Mueller was using big data to understand why teen and young adult suicide rates in the United States were spiking. The U.S. Centers for Disease Control and Prevention estimates that suicides among 10- to 24-year-olds jumped 56 percent between 2007 and 2017.

Scholars theorized that suicidal people attracted other suicidal people. But Muellers work undercut that idea. In 2015 in the Journal of Health and Social Behavior, for instance, she reported that merely having a suicidal friend did not increase a teens suicide risk. A teens risk only went up with awareness that a teenage friend had made a suicide attempt. Knowledge of the attempt matters to transformingrisk, Mueller says. She carried an understanding of that contagion effect to Poplar Grove, where she worked with sociologist Seth Abrutyn of the University of British Columbia in Vancouver, the half of the duo who is more focused on the theoretical.

Anna Muellers long-term goal is to create a sort of litmus test that identifies schools that could be at risk of a suicide cluster.

The team conducted 110 interviews and focus group meetings, lasting from 45 minutes to four hours, with Poplar Grove residents, plus some individuals outside the community for comparison. The teams research revealed that teens felt an intense pressure to achieve in their affluent, mostly white town, where everybody seemed to know everyone else. While teens and young adults in a first wave of suicides might have had mental health problems, peers and community members often attributed those deaths to the towns pressure cooker environment. That narrative, however incomplete, was especially strong when the youth who killed themselves were classic overachievers. Tragically, over time, that script became embedded in the local culture, making even youth who werent previously suicidal see suicide as a viable option (SN: 4/3/19), Mueller says.

Mueller and Abrutyn were among the first researchers to start chipping away at the underlying reasons for why suicide rates have been rising in high schoolers, particularly overachieving girls without obvious underlying mental health problems, says Bernice Pescosolido, a sociologist at Indiana University in Bloomington who helped bring Mueller into the schools sociology department. What Anna and Seth have really been able to show is how imitation works and what the contagion effect looks like on the ground.

Muellers long-term goal is to create a sort of litmus test that identifies schools that could be at risk of a suicide cluster. That way, school and community leaders can intervene before the first suicide and its resulting firestorm. Since fall 2018, she has been researching suicide trends in school districts in Colorado that are more diverse than Poplar Grove. When it comes to school culture, her early work shows, theres often a trade-off between academic or athletic excellence and a supportive environment.

In anticipation of her work in Poplar Grove, Mueller knew she needed a more boots-on-the-ground approach than her big data training allowed. So she trained in qualitative methods, including how to design a study; interview techniques, such as how to write questions to elicit desired conversations; and the detailed data analysis required for this research tactic.

Mueller also sees the value in observing interactions, a common sociological approach. This spring, with the pandemic in full swing, she spent a lot of time on her home computer watching socially distant graduation ceremonies in her Colorado schools. She found that a schools culture showed in the details, such as whether valedictorians addressed hot-button issues, such as the Black Lives Matter movement, in their speeches. Of all of my moments in the field, rituals are the ones that tug at my own heartstrings because Im watching kids graduate and thats just inherently beautiful, but it also is a very powerful data moment, she says. SujataGupta

The National Suicide Prevention Lifeline can be reached at 1-800-273-TALK (8255).

Affiliation: MITHometown: Adelaide, AustraliaFavorite subatomic particle: The gluon

When Phiala Shanahan was a graduate student, she was shocked to learn that experiments disagreed on the size of the proton (SN: 9/10/19). Protons and neutrons are the key building blocks of 99 percent of the visible matter in the universe, she says. And we know, in some sense, surprisingly little about their internal structure.

If theres something I dont understand, Im extremely stubborn when it comes to figuring out the answer.

That ignorance inspires her studies. She aims to calculate the characteristics of protons and neutrons based on fundamental physics. That includes not just their size, but also their mass and the nature of their components how, for example, the quarks and gluons that make them up are sprinkled around inside. Such calculations can help scientists put the standard model, the theory that governs elementary particles and their interactions, to the test.

Shanahan is known for her prowess calculating the influence of gluons, particles that carry the strong force, which binds the proton together. For example, when gluons contributions are included, the proton is squeezed to a pressure greater than estimated to exist within incredibly dense neutron stars, she and a coauthor reported in Physical Review Letters in 2019. Its a very remarkable calculation, says physicist Volker Burkert of the Thomas Jefferson National Accelerator Facility in Newport News, Va. Thats very fundamental, and its the first time it has been done. Because they have no electric charge, gluons tend to elude experimental measurements, and that has left the particles neglected in theoretical calculations as well. Shanahans gluon results should be testable at a new particle collider, the Electron-Ion Collider, planned to be built at Brookhaven National Lab in Upton, N.Y. (SN: 4/18/17).

Persistence. I hate not knowing something, she says. So if theres something I dont understand, Im extremely stubborn when it comes to figuring out the answer.

A technique called lattice QCD is the foundation for Shanahans work. Its named for quantum chromodynamics, the piece of the standard model that describes the behavior of quarks and gluons. QCD should allow scientists to predict the properties of protons and neutrons from the bottom up, but the theory is incredibly complex, making full calculations impossible to perform even on the best available supercomputers. Lattice QCD is a shortcut. It breaks up space and time into a grid on which particles reside, simplifying calculations. Shanahan is leading efforts to use machine learning to rev up lattice QCD calculations putting her persistence to good use. We dont have to rely on computers getting better. We can have smarter algorithms for exploiting those computers, she says. She hopes to speed up calculations enough that she can go beyond protons and neutrons, working her way up to the properties of atomic nuclei. EmilyConover

Affiliation: CaltechHometown: Kolomna, RussiaFavorite protein: He cant pick just one

Mikhail Shapiro believes that in the future, were going to have smart biological devices that are roaming our bodies, diagnosing and treating disease something akin to the submarine in the 1966 classic sci-fi film Fantastic Voyage. As the shrunken sub entered and repaired the body of a sick scientist, commanders on the outside helped control it. Similarly, were going to want to talk to the cells that we are going to send into the body to treat cancer, or inflammation, or neurological diseases, Shapiro says.

Shapiro and his colleagues are working on building, watching and controlling such cellular submarines in the real world. Such a deep view inside the body might offer clues to basic science questions, such as how communities of gut bacteria grow, how immune cells migrate through the body or how brains are built cell by cell.

Despite his futuristic visions, Shapiro is often drawn to the past. I like science history a lot, he says. Right now, hes in the middle of rereading the Pulitzer Prizewinning The Making of the Atomic Bomb. Just before that, he read a biography of Marie Curie.

There is not a protein that I learn about that I dont think about ways to misuse it, Shapiro says. But hes especially fond of the proteins that build the outer shell of gas vesicles in certain kinds of bacteria. These microscopic air bags have so many uses that were totally unanticipated, Shapiro says.

In addition to letting bacteria sink or float, these bubbles provide a communication system, Shapiro and colleagues have found. Over the last several years, they have coaxed both bacterial cells and human cells to make gas vesicles and have placed such cells within mice. Because the air-filled pockets reflect sound, the engineered cells can be tracked from outside a mouses body. Using patterns of sound waves, the researchers can also drive bacterial cells around in lab dishes.

There is not a protein that I learn about that I dont think about ways to misuse it.

In another nod to Fantastic Voyage, scientists can weaponize these cellular submarines. Weve essentially turned cells into suicide agents triggered by ultrasound, Shapiro says. This explosion could release chemicals into the surroundings and destroy nearby cells. This sort of targeted detonation could be damaging to tumors, for instance. Complete warfare is possible, he says.

By seeing the potential in these esoteric gas vesicles, Shapiro was ahead of his time and hugely innovative, says Jason Lewis, a molecular imaging scientist at Memorial Sloan Kettering Cancer Center in New York City. I think weve only scratched the surface of what his work will do in terms of a greater impact.

Frustration, Shapiro says, is what made him switch to engineering after studying neuroscience as an undergraduate at Brown University in Providence, R.I. He realized that existing tools for studying processes inside the brain fell short. And I didnt see enough people making better tools.

But he didnt stop at developing new neuroscience technologies. Oddly enough, once I got into the engineering part of things, I got so fascinated with weird proteins, and magnetic fields, and sound waves, and all the more physics-y side of things. Thats become as much, if not more, of my passion as the original neuroscience. In his Twitter bio, Shapiro describes his expertise as succinctly as possible: Bio-Acousto-Magneto-Neuro-Chemical Engineer at Caltech. LauraSanders

Affiliation: Stanford UniversityHometown: Nanjing, ChinaFavorite organism: Planarian

Planarians are the most charismatic of all flatworms, Bo Wang says. They have this childish cuteness that people just love. But the adorable facade isnt what drew Wang to study the deceptively simple worms, which resemble little arrows with eyes. It was planarians superpower: regeneration. Slice a planarian into pieces and, within a week or two, each chunk will grow into a new flatworm head and all. Studying the cells that drive this process could offer lessons for turning on regeneration in human tissues, to treat various diseases, regrow limbs and grow organs for next-generation transplants.

Wang uses statistical physics to figure out how planarians regenerate entire organs cell by cell. Newly formed brain cells, for instance, must physically position themselves to avoid turning into amorphous aggregates, Wang says. His interest in how things fit together began in graduate school at the University of Illinois at Urbana-Champaign. There, Wang trained as a physicist and worked on self-assembling materials. Wang now works to uncover the physical rules that living cells follow. Im fascinated by how molecules arrange themselves seemingly randomly, but there are still statistical rules that those molecules will follow, he says.

Bo Wang works to uncover the physical rules that living cells follow.

His physics-based approach is raising new questions and unveiling biological processes that would be hard for biologists to come by using traditional methods alone, says regeneration biologist Alejandro Snchez Alvarado of the Stowers Institute for Medical Research in Kansas City, Mo. Wang is a new breed of flatworm biologist, Snchez Alvarado says. He is occupying a very unique niche in the community of developmental biology.

Wang and colleagues recently found that nerve cells, or neurons, in regenerating planarian brains form a predictable pattern dictated by the types of cells in their midst. Planarians brains are akin to cities made up of neighborhoods of neurons. Within each neighborhood, no two neurons that do the same job will live next to each other; those cells repulse each other but stay close enough to communicate, the researchers reported in the May Nature Physics. Because of this behavior, increasing the types of neurons in a neighborhood limits the ways cells can pack together. The team dubbed this packing process chromatic jamming, after a famous mathematical puzzle called the four-color problem (SN: 3/6/09).

The finding is surprising and challenges what we think we understand about organogenesis and about organization of cells within an organ, says Snchez Alvarado. Chromatic jamming appears to be key to how the planarian brain comes together, guiding single cells into neighborhoods that are a driving force in organ development, he says. If similar physical rules apply to human cells, that could help scientists sketch blueprints for engineering and growing artificial organs. CassieMartin

Affiliation: Stowers Institute for Medical ResearchHometown: Glenwood, IowaFavorite organism: Fission yeast

An invitation to work in the lab of her genetics professor Robert Malone at the University of Iowa in Iowa City set SaraH Zanders on the path to becoming a scientist. It was a turning point in my life, Zanders says. Before that, she didnt really know how she would put her biology degree to use, or what it meant to be a scientist. In Malones lab, she fell in love with meiosis, the process by which organisms divvy up genetic information to pass on to future generations. The first step is julienning the genome and swapping pieces of chromosomes. That just seems like such a bad idea to basically shred your [DNA] in the process of getting it from one generation to the next, she says. She started studying the proteins involved in making the cuts. It was like I was born to do that. I never would have known without that push.

A different kind of push led Zanders to spell her first name with a capital H: An elementary school teacher kept leaving the letter off. Zanders has capitalized it for emphasis ever since. If I write it without the big H, it doesnt look like my name anymore, she says. It feels like somebody else.

Meiosis is full of conflict. For her postdoctoral work, Zanders focused on a particular type of dustup caused by some selfish genesgenes that propagate themselves even if it hurts the host. As the monk Gregor Mendel laid out in his study of pea plants, a particular version of a gene typically has a 50-50 chance of being passed on to the next generation. But the selfish genes Zanders was studying, a type called meiotic drivers because they propel themselves during meiosis, manage to get themselves inherited far more often. These kinds of systems do a complete end run around Mendels laws, says Daniel Barbash, an evolutionary geneticist at Cornell University.

In Schizosaccharomyces pombe, also called fission yeast, Zanders discovered, a family of selfish genes makes moves that would be right at home in a Game of Thrones story line. Zanders and colleagues were the first to work out the molecular tricks that thesegenes use to skirt Mendels laws, reporting the findings in eLife in 2017. The genes, known as wtf genes, produce both a poison and an antidote. All of the spores the yeasts gametes get the poison, but only those that inherit certain gene versions also get an antidote. Spores that dont get the antidote die, ensuring that only offspring with specific wtf gene versions survive to pass their genes on to the next generation. For the fission yeast, such predatory tactics can have big consequences, even driving two nearly identical strains toward becoming different species. Some selfish genes have made themselves essential for proper development (SN: 7/3/18). In humans and other animals, genetic conflicts may lead to infertility.

For the fission yeast, such predatory tactics can have big consequences, even driving two nearly identical strains toward becoming different species.

This extremely important family of meiotic cheaters has been just sitting in plain sight waiting for somebody who had the right kind of lens and the care to discover them, says Harmit Malik, an evolutionary geneticist at the Fred Hutchinson Cancer Research Center in Seattle and Zanders postdoctoral mentor. Zanders helped build a case that the skewed inheritance in these yeast was a real effect, not just fluctuations in the data. Before she began her work, virtually nothing was known about meiotic drivers in yeast. Now the wtf genes are among the best known meiotic drivers studied in any lab organism. Some selfish genes in worms also use the poison-antidote trick to beat the competition (SN: 5/11/17). Meiotic drivers in fruit flies, mice and maybe humans win genetic conflicts by other means (SN: 10/31/17; SN: 2/24/16).

Zanders is now on the lookout for other genetic fights in yeast. Understanding such conflicts more generally may help answer big questions in evolution, as well as shedding light on human infertility. As for what motivates her, Its just I like to solve puzzles, Zanders laughs. I wish it was a deep desire to help people, but its definitely not that. TinaHesmanSaey

Affiliation: CaltechHometown: Jinzhai County, ChinaFavorite hobby: Carpentry

As the Rose Parade wound through Pasadena, Calif., on January 1, 2020, Zhongwen Zhan listened to the underground echoes of the marching bands and dancers. With a sensitive technology known as distributed acoustic sensing, or DAS, Zhan tracked the parades progress. He even identified the most ground-shaking band. (It was the Southern University and A&M Colleges Human Jukebox.)

The study was a small but elegant proof of concept, revealing how DAS is capable of mapping out and distinguishing among small seismic sources that span just a few meters: zigzagging motorcycles, the heavy press of floats on the road, the steady pace of a marching band. But Zhan seeks to use the technology for bigger-picture scientific questions, including developing early warning systems for earthquakes, studying the forces that control the slow slide of glaciers and exploring seismic signals on other worlds.

Zhan has a crystal-clear vision of DAS scientific possibilities, says Nate Lindsey, a geophysicist at Stanford University who is also part of the small community of researchers exploring the uses of DAS. When you get such a cool new tool, you like to just apply it to everything, he adds. But Zhans expertise is very deep, and it goes into many different areas. He knows whats important.

So far, Zhan and other researchers have used the technology to study aftershocks following the 2019 Ridgecrest earthquakes in Southern California (SN: 7/12/19), to demonstrate that interactions between ocean waves produce tiny quakes beneath the North Sea, and to examine the structure of glaciers.

DAS piggybacks off the millions of fiber-optic cables that run beneath the ground, ferrying data for internet service, phones and televisions (SN: 6/14/18). Not all of the glass cables are in use all of the time, and these strands of dark fiber can be temporarily repurposed as seismic sensors. When pulses of light are fired into the fibers ends, defects in the glass reflect the light back to its source. As vibrations within the Earth shift and stretch the fibers, a pulses travel time also shifts.

Whole networks of seismic sensors could be deployed in places currently difficult or impossible to monitorat the ocean bottom, atop Antarctic glaciers, on other planets.

Over the last few years, scientists have begun testing the effectiveness of these dark fibers as inexpensive, dense seismic arrays which researchers call DAS to help monitor earthquakes and create fine-scale images of the subsurface. In these settings, Zhan notes, DAS is proving to be a very useful supplement to existing seismograph networks. But the potential is far greater. Whole networks of sensors could be deployed in places currently difficult or impossible to monitor at the bottom of the ocean, atop Antarctic glaciers, on other planets. Seismology is a very observation-based field, so a seismic network is a fundamental tool, he says.

Ive been interested in science since I was young, but wasnt sure what kind of science I wanted to do, Zhan says. In China, students usually have to decide on a field before they go to college, he adds, but I was fortunate. At age 15, Zhan was admitted to a special class for younger kids within the University of Science and Technology of China in Hefei. The program allowed him to try out different research fields. A nature lover, Zhan gravitated toward the earth sciences. Environmental science, chemistry, atmospheric science I tried all of them.

Then, in late 2004, a magnitude 9.1 earthquake ruptured the seafloor under the Indian Ocean, spawning deadly tsunamis (SN: 1/5/05). After hearing from a researcher studying the quake, Zhan knew he wanted to study seismology. I was amazed by how seismologists can study very remote things by monitoring vibrations in the Earth, Zhan says. The data are just wiggles, complicated wiggles, but so much info can be extracted. And when we do it fast, it can provide a lot of benefit to society. CarolynGramling

Scientists and journalists share a core belief in questioning, observing and verifying to reach the truth. Science News reports on crucial research and discovery across science disciplines. We need your financial support to make it happen every contribution makes a difference.

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This years SN 10 scientists aim to solve some of sciences biggest challenges - Science News

When considering ongoing genetic improvement efforts in tilapia culture, comparisons with the development of the modern chicken industry often present themselves.

C Greg Lutz

Some 150 years ago, global poultry production looked quite a bit like tilapia production did in 1970. Chicken production was seasonal in many parts of the world because of climate and nutritional constraints, and it was a very fragmented industry, focusing mostly on local or regional markets. As a result, there were hundreds of localised chicken breeds and the culture of different birds in different localities was the norm.

Throughout the world the past century saw a shift from this fragmented industry, based on subsistence- and small-scale production, to vertically integrated facilities and specialised hatchery businesses with a focus on genetic improvement. This trend continues today, as industrial production expands in less developed nations.

The original focus of chicken breeders involved both egg and meat production in the same birds, but this shifted to separate breeding goals after World War I. At that point, production of meaty birds, known as broilers, became distinctly differentiated from that of the layers that supplied eggs. When broilers were first commercialised, mass selection was the approach used to improve production and meat yield. This resulted in moderate progress, because at the time most breeding flocks exhibited heritabilities ranging from 0.2 to 0.4.

In the tilapia industry the importance of meat yield is finally gaining more recognition as an important breeding goal. Heritabilities for fillet yield, ranging from 0.2 to 0.38 from 130 to 210 days of age, were reported in a population of Nile tilapia in Brazil (Turra et al. 2012) and a heritability of 0.25 was reported from Malaysia (Nguyen et al. 2010), but Gjerde et al. (2012) reported a much lower value of 0.06 for a line from Nicaragua. More recently, Yoshida et al. (2019) reported a modest increase in heritability estimates when using genomic information on a population in Costa Rica.

In chickens we see a negative correlation between growth and fecundity, so reproductive capacity is important in female lines, even when meat production is the ultimate goal. In tilapia improvement programmes, growth is also usually the breeding goal, but spawning success and frequency are critical considerations in commercial hatcheries. Heritability of spawning success was reported as 0.14 to 0.22 for a population of Nile tilapia in Vietnam, depending on the statistical model and spawning period.

In the years following World War II, chicken breeders began to cross distinct lines to produce broiler chicks. One reason was to maintain female lines that exhibited good egg production while crossing these with male lines that might be less productive as a result of intense selection for growth. This same practice occurs in many tilapia hatcheries around the world. Modern broiler production has evolved into a five-year process where four distinct lines are crossed to ultimately produce chicks. Crossing distinct lines is still not a common practice in tilapia production, but for a period of time hybrids were quite popular in China and also in Israel. At one time the breeding programme of a large tilapia operation in Honduras was based on a double crossing design similar to those used in the chicken industry.

Disease resistance has been an important component of chicken breeding programmes for many decades. In tilapia, a similar emphasis is taking hold. The recent emergence of tilapia lake virus (TiLV) has caused concern across the globe, but new research suggests breeding programmes to reduce or eliminate this threat may be possible. Using data from 124 O. niloticus families in Malaysia, researchers estimated heritabilities for TiLV resistance ranging from 0.48 to 0.56, with family survival ranging from 0 percent to 100 percent (Barria et al. 2020).

Some of the more long-standing tilapia pathogens are still causing major problems. Many tilapia hatcheries struggle with Flavobacterium columnare, the causative agent for columnaris disease. Selective breeding has been shown as a means to improve resistance to columnaris in tilapia, and this is important in tropical regions, where vaccines are not available and antibiotic resistance is on the rise. Researchers working with the Chitralada 4 strain in Thailand reported heritability estimates for columnaris resistance ranging from 0.14 to 0.30, based on different statistical models, with family survival rates ranging from 8 percent to 70 percent (Wonmongkol et al. 2017). Genetic influence over resistance to Streptococcus iniae and S. agalactiae have also been demonstrated, with heritabilities of 0.52 and 0.38, respectively, but resistance to one pathogen does not appear to confer resistance to the other (Shoemaker et al. 2016). Dr Carlos Lozano, with Spring Genetics, stated that selection for disease resistance is among the tilapia industrys top priorities for genetic improvement, adding In particular diseases like S. Iniae, S. agalactiae, Francisella,TiLV and columnaris.

C Greg Lutz

By the 1960s, chicken improvement programmes were emphasising the importance of feed conversion efficiency. This trait is quite difficult to measure in fish, but recent study demonstrated significant genetic control over it in Nile tilapia, with an estimated heritability of 0.32 (de Verdal et al. 2018). One genetic correlation with feed efficiency that was significant was weight loss at fasting (0.80), which would allow indirect selection for individuals with superior FCR while avoiding the complex task of measuring individual feed intake.

As quantitative genetic tools and selection programmes became more sophisticated, the chicken breeding sector began to consolidate, and most breeding programmes adopted selection indices that included more than 40 distinct physiological traits relating to feed efficiency, disease resistance, skeletal structure and behaviour. By the late 2000s only three major breeding companies dominated the market: Cobb-Vantress, Aviagen and Group Grimaud (a multi-species company based in Europe that also has interests in aquaculture species).

Over time, genetic improvement tools for chickens have evolved from mass selection, to index selection, to the use of BLUP estimates, to marker-assisted selection and now genomic selection is becoming the norm. When I asked Dr Lozano to cite some of the most important developments in tilapia improvement in recent years, he indicated: The recent development of SNP chips for tilapia has enabled the inclusion of marker assisted (MAS) and genomic selection in tilapia breeding programmes (eg Spring Genetics and GenoMar). This is especially important for disease resistance, where generally family selection was used and candidates were selected based on the performance of their siblings. With genomic selection we can select candidates based on their individual genetic merit. Gene-editing technologies have also recently been applied by AquaBounty and approved for Nile tilapia in Argentina.

Since there are so few genetic nuclei, modern industrial chicken lines must be adaptable to conditions found around the globe. Unlike a century ago, when any number of local chicken breeds could be found around the world, the birds being produced by these large corporations must incorporate adaptability to a variety of grow-out conditions and diets. This potential conflict between centralised breeding operations and a multitude of grow-out environments may eventually become an issue for tilapia producers as improved lines are disseminated across the globe. When asked about this, Dr Lozano commented: I envision the dissemination of superior genetics mostly to industrial scale producers. For small scale producers the low profit margin may restrict their accessibility to high quality fry.

Modern chickens are largely descended from the red jungle fowl, but at least one other related species appears to have contributed to the birds we raise today. Many lines of O. niloticus also include genetic contributions from other species. However, while the genome of the modern chicken has been relatively stable over the past century, this milestone is yet to be attained in tilapia. Not all tilapia are created equal. Researchers in Thailand used microsatellite genetic markers to examine changes in four lines of Nile tilapia (Oreochromis niloticus) derived from the genetically improved farmed tilapia (GIFT) strain, and in two lines derived from a local Chitralada strain. Three of the four GIFT-derived populations remained relatively pure, with no decline in genetic variation. However, one of the GIFT-derived populations showed high levels of introgression from the Chitralada strain, and the Chitralada-derived populations exhibited introgression from GIFT lines. Introgression from O. mossambicus was also observed in one of the Chitralada-derived lines and from O. aureus in one of the GIFT-derived lines (Sukmanomon et al. 2011).

C Espejo Genipez Viterbo

The situation regarding some semblance of genomic standardisation becomes even more complicated with red tilapia. In many parts of the world, consumers demand red-coloured fish. Although red colouration has been established in O. niloticus (the red Stirling line) through the isolation and propagation of a single red mutant (McAndrew et al. 1988, Hussain 1994), most strains of red tilapia include genetic contributions from several distinct species including slower-growing O. mossambicus and O. urolepis hornorum (Desprez et al. 2006). In recent years efforts to develop robust commercial lines of red O niloticus have advanced through backcrossing red Stirling fish with fast-growing strains such as GIFT and Chitralada (Lago et al. 2017). In Colombia, my colleague Carlos Espejo has adapted a similar strategy, crossing local red lines of multi-species ancestry with Chitralada-based wild-type fish.

Just as most unimproved varieties of chickens would not perform very well in commercial chicken houses, most industrial birds would not survive long in the farmyards of subsistence farmers around the globe. Many local varieties of chicken persist around the world, and leaving aside all the introgression and hybridisation that has occurred over the past century, even within pure O. niloticus a similar array of variation can be found in terms of local and regional strains. Africa as a whole is a region of concern in terms of conserving genetic resources scattered among hundreds of local stocks of Nile tilapia. In the case of chickens, many historically recognised European, Asian and North American breeds were already reported as extinct by the FAO in 2007, having been replaced by modern varieties. Many more breeds were listed as at risk at that time. However, in regions where subsistence farming still plays a significant role in food production, indigenous chicken breeds persist, due to their accumulated adaptation to local conditions. Hopefully the same will hold true for tilapia.

References available from the author.

His career has included experience with numerous aquatic species in a number of countries. Dr Lutz is also the author of the book Practical Genetics for Aquaculture.

Original post:
The aquatic chicken: tilapia genetics and their parallels with poultry - The Fish Site

A study conducted on fruit flies reveals that there might be more mutations that affect aging than scientists previously thought.

Researchers from Linkping University in Sweden have conducted a new study that resulted in findings that support a novel theory regarding the type of mutation that causes aging. Most people have come to accept that aging is an irreversible process - an organism is born, it develops, ages, and eventually dies.

However, for evolutionary biologists, this is not the case. Urban Friberg, senior lecturer at Linkping University's Physics, Chemistry, and BIology department explains that "the evolution of aging is, in a manner of speaking, a paradox." Friberg adds that there are organisms that continue to develop but without ceasing to age.

The details and results of their study are published in the journal BMC Biology.

(Photo: Photo by Leon Neal/Getty Images)LONDON, ENGLAND - FEBRUARY 22: A magnifying lamp illuminates a selection of fruit flies in a sample dish, at the "Craft and Graft" exhibition at the Crick Institute on February 22, 2019, in London, England.

Aging is defined as the "decline in physiological function with age, which results in a gradual decrease in survival and/or reproductive performance." While most theories support that aging, and its characterizations, are based on genetics. For aging to work in response to the declining strength of age-selection, researchers noted the need for a genetic architecture that accommodates mutations with age-specific effects.

Evolutionary biologists came up with two theories, about seventy years ago, to explain the two types of mutation that causes aging. Both mutations were explained to be detrimental to the organism over time - causing it to age. These mutations, however, may either be advantageous or simply neutral early in the organism's life. However, researchers have not yet identified which of these mutations contribute more to aging.

The study from Linkping University used the Drosophila melanogaster, or the fruit fly, one of the most common subjects for research around the world. Researchers experimented with 20 different mutations introduced to the genetic material of the flies. Each experiment had mutated and control groups. The mutations were visibly observable for the researchers - a different appearance of the wings, or a difference in the eye of the flies.

RELATED: New Study Mimics Fly Vision for Rapid Flight Control in Robots

Researchers then used the fertility of fruit flies as the metric for aging. As organisms grow older, their chances of death increase, and their ability to give birth reduces. They did this by counting the eggs laid by female specimens early on, then every two weeks - to see if the introduced mutations affected the rate at which these flies laid eggs.

Results show that the mutations had negatively affected the fertility of the fruit flies early in life, while others caused the fruit flies to lay eggs more rapidly. Sixteen of the mutations tested had adversely affected fecundity, with 14 of these 16 mutations increasing in effect as the flies aged.

"The results suggest that mutations that are detrimental early in life can also contribute to aging," said Martin Iinatti Brengdahl, a Ph.D. student at Linkping University's Physics, Chemistry, and BIology department. He explained: "it may be that mutations that bring on aging are significantly more common than we previously believed."

RELATED: Too Lazy to Exercise? Is It Genetic?

Check more news and information on Aging in Science Times.

See the article here:
Mutations That Affect Aging May Be More Common Than Previously Thought - Science Times

While women can totally experience hereditary and age-related hair loss, there are some other factors to keep in mind. Usually, Causes in receding hairlines for women are frontal fibrosing alopecia or traction alopecia, Ziering notes. Fibrosing alopecia is an autoimmune condition that has the body mistakenly attack the follicles that results in follicular damage or scarring. It is not very common, and it mostly affects postmenopausal women. The theory here is that post-menopausal women have a low estrogen environment around the hair follicles, which is thought to trigger the fibrosing alopecia process. But again, its not so common.

Traction alopecia, however, is much more commonplaceits a medical condition that results from long-term damage on the hair. It usually stems from consistent, too-tight hairstyles like braids, weaves, buns or tight ponytails, especially on chemically treated hair, says Ziering.

Or, women may also experience postpartum hair loss, which can cause the hairline to look a bit meager. It does eventually grow back (usually in six to 12 months), but the wait-time can understandably feel a little frustrating.

See original here:
Receding Hairlines: Lets Get To The Root Of The Issue + 6 Expert Ways To Stop It - mindbodygreen.com

A lack of transparent data on the egg-freezing services provided by fertility clinics is creating a series of ethical issues, experts have warned.

In a briefing note published by the Nuffield Council on Bioethics, they said there is a pressing need for information on the success rates of egg freezing to be presented more clearly, accessibly and transparently.

The experts said a lack of long-term data on egg freezing gives an incomplete picture of success rates and motivations for freezing, which creates a series of ethical issues.

Frances Flinter, Nuffield Council member and emeritus professor of clinical genetics at Guys and St Thomas NHS Foundation Trust, said: Its vital for women thinking about freezing their eggs to be able to make informed choices.

To do this, they need easy access to data on their chances of success across various stages of the process from freezing and thawing eggs, to having a live birth.

But they also need clinics to be frank about the process and about what is known and unknown about egg freezing.

This is especially important given egg freezings increasing popularity.

The Nuffield note also said that clear information and research is needed for egg freezing being offered as an employment benefit by some companies in the UK.

It said: SEF (social egg freezing) as an employment benefit might be seen as a workplace gender equaliser that has positive effects on womens salaries.

However it might also push women to delay motherhood to show commitment to their career in a manner not required of male employees.

The Nuffield note has also highlighted examples of marketing concerns over egg freezing, which include the trivialisation of egg freezing in media coverage, the role of social media influencers promotion of the technology, the use of algorithms that target women with egg freezing adverts, and events where egg freezing is discussed over prosecco.

It is important that marketing strategies consider such research so that womens anxieties are not exploited, it said.

The note also discussed the benefits of increasing the storage limit for social egg freezing from 10 years, which is currently being considered by the Government.

Positive implications of increasing the limit include enabling women to freeze at an earlier age and providing them with more time to make their own decisions about when and whether to use their frozen eggs, it said.

Commenting on the Nuffield Council note, Dr John Appleby, lecturer in medical ethics at Lancaster University, said: The UKs 10-year egg freezing rule for social egg freezing is not fit for purpose and this briefing highlights how we have very little reason for maintaining it any longer.

He added: If the UK fails to remove the 10-year limit on social egg freezing, there is a risk that some UK patients will be forced to travel abroad in order to access the egg freezing services that they want.

Joyce Harper, professor of reproductive science, Institute for Womens Health, University College London, said: We are seeing an increase in the marketing of egg freezing to young women, with a lack of unbiased information including the value of egg freezing, the success and the cost.

She added: The Nuffield report highlights the need for fertility education to ensure women are aware of female fertility decline.

See the rest here:
Lack of transparent data on egg freezing creating ethical issues, experts warn - The Irish News

Editors Note: The Chronicle is working to assist local businesses suffering from the effects of the COVID-19 virus spread and associated government orders to close or limit commerce. There will be a feature on a local business in each edition of The Chronicle and at chronline.com moving forward. To be considered, email reporter Eric Trent at etrent@chronline.com. Additionally, The Chronicle will continue to offer its coverage of the coronavirus and its effects across the community, state and nation free outside of our paywall at chronline.com.

ROCHESTER Max, a 6-year-old German shepherd, is crouched motionless in a grassy yard on a sunny Tuesday in Rochester; his eyes fixated on a figure 25 yards away. Pack em! yells Wayne Curry as the canine bolts upright and tears off toward a man in a full body suit of protective gear. Max springs to the air in one fluid motion, clamps onto a protective arm sleeve and rips it off the trainers arm. Max does a victory lap around the yard with the sleeve in his mouth.

Max, a large alpha male with a smooth black coat, is Currys personal pet and the most highly-trained dog at his Kraftwerk K9 company, a German shepherd training and breeding facility located on the rural outskirts of Rochester. And Max, who snaps to attention at a bevy of commands that Curry reels off in German, is the prime example of what all of Currys 30 adult German shepherds are trained and bred in doing: protection, obedience and tracking.

Unassuming passersby may notice the wrought iron fence with the company name and the giant German Shepherd emblem, but have no idea that one of the top German shepherd trainers and handlers in the world works just beyond the fence.

Der Speigel, one of Europes most-read news websites, named Curry the most successful German shepherd breeder in the U.S. in 2011. Germans now travel 5,000 miles to Rochester just to buy dogs from him.

Max takes the training arm right off Dakota Deal throwing him to the ground Tuesday afternoon at Kraftwerk K9 German Shepherds in Rochester.

Curry first became interested in the breed after his father bought him a male, King, and female, Willy, when he was 8 years old, and he began training and preparing them for shows.

He started to get into protection training as an adult when he came home from work one night to find his Rottweiler was chewing on a bone in the front yard while the back door had been kicked in and everything valuable was stolen from his house.

He left his machinist job at Boeing in 1987 to become a full-time obedience trainer in Centralia where hed go to shelters and pass his business cards out to gain customers.

The shelter really loved me because they never had to put a dog to sleep, Curry said. I would take them out and train them just so I could get a better knowledge base.

He later entered dog breeding after he couldnt find a dog that he wanted. For the price of what he could have paid for six average females, he bought one good one, Chili, which had a litter of six puppies. From there he gained the foundation of what a perfect dog could be.

Ive always kept that same picture of what a German shepherd should be like, Curry said. My goal never changes.

He moved to Rochester in 1995, bought an $18,000 mobile home and a five-acre property of Christmas trees for $40,000 and built his first four kennels.

Wayne Curry talks about the uniquely designed kennels and living conditions Tuesday afternoon at Kraftwerk K9 German Shepherds in Rochester.

Hes since expanded to 25 acres and has recently installed state-of-the-art kennels that look more like AirBnBs for humans than dog houses. They feature climate-controlled rooms, heated tile floors and ceiling fans with a light. Outside of each dog house is a fenced concrete ring with wood chips in the middle, a design that Curry came up with himself.

Hes trained and bred nearly 600 litters of German shepherd puppies since 1987. His entire facility is surrounded by training fields and four houses that he and his employees live in so the dogs receive 24/7 care year-round. Its more like a resort for dogs than a kennel.

In the front yard of the facility are foot-tall fences where five litters of puppies roam around in the green grass. Each puppy is friendly and approaches the fence to be pet by anyone who greets them.

Inside the main building, three walls of the lobby are covered in dozens of trophies Curry won while competing in 100 competitions worldwide.

The first German shepherd he handled became a Pacific Northwest Schutzhund Champion. He qualified for the Weltunion der Vereine fr Deutsche Schferhunde (WUVS), the working dog world championships in Germany, on four different occasions, including three years in a row with the same dog. He was the highest-scoring American dog handler at WUVS one year. To qualify for the WUVS, a handler has to compete in three national events in the U.S. and place top five in combined scores.

Curry was the first handler in history to have not just one, but three American-bred dogs compete in the Bundessiegerprfung (BSP) German nationals. And in 2007, he won the AKC Working Dog Championship.

Its fun to watch when American dogs are in Germany winning, Curry said.

A curious puppy stretches up a fence Tuesday afternoon at Kraftwerk K9 German Shepherds in Rochester.

Curry has since retired from competition and focuses solely on providing trained dogs to private parties, mostly for personal and home protection. He has drawn clients from around the world.

Just as the pet industry boomed during the 2008 recession, Curry is seeing it again with the COVID-19 pandemic. His business has tripled over what it did during the 2008 recession.

Fear is a motivator, Curry said. We have the highest level of fear that I can remember. Fear causes people to think about protecting themselves.

German shepherds are the perfect security measure, Curry said. They are not concealed like a handgun. Theyre very visible. If a person is going to break into a house, theyre going to choose the one that doesnt have the German shepherd in the yard, he said. His dogs arent just protection animals, either. They are friendly and safe around children, he said. As this reporter toured the facility, each dog they encountered was friendly and pettable.

Private parties are figuring out that they need a dog with courage and a dog with a sound nerve base, which means you can take them everywhere and the dog is always safe and not a dangerous dog, Curry said. We dont have any dangerous dogs on our property.

His former dogs have risen to all kinds of heights, too. One of Maxs sons is training to compete in the German national championships. Curry sold a female, Pele, to the Seattle Police Department to become a K9 dog. Pele was featured on A&Es TV show Americas Top Dog earlier this year, which is like America Ninja Warrior for dogs.

Wayne Curry smiles while posing with Max and the training arm Tuesday afternoon at Kraftwerk K9 German Shepherds in Rochester.

Curry doesnt like to take all the credit for his dogs, however. Its not just the training that makes a dog effective at its job, whether it be tracking down bad guys for the police or protecting a home against invaders. One has to find a dog that enjoys doing what a person wants it to do.

A lot of that has to do with breeding and bloodlines, and Curry has some of the top lineages one can find. Dogs are a product of their parents, he said, and if even one puppy does not turn out to be like its parents, Curry will stop breeding that line.

Currys training just enhances what the dogs naturally have, and he uses it to maximize their ability and effectiveness. Courage, hardness and fighting drive are the traits evaluated in the competitions he competed in and those are still the traits he strives for with the dogs he sells.

A dog doesnt pass on his training, he passes on his genetics, Curry said. The ideal dog has really good genetics and really good training you dont have to teach a dog that has natural drive, and thats what I have, is dogs with natural drive.

Read more from the original source:
Kraftwerk K9 Offers Some of the Best-Trained German Shepherds in the World - Centralia Chronicle

Body shaming or mocking someone on their appearance can have a negative impact on their mental health, erode their self-confidence, or even lead to eating disorders. Which is why it is important to speak up against it.

Recently, a body-positive content creator and model, shared a video in which she urged everyone to stop saying that body-positive pages are glorifying obesity when theyre actually normalizing all body types. She also added that we should stop assuming that fitness is directly related to ones weight and refrain from shaming others by calling them names like sticks (for skinny people) and elephants (for curvy people).

Weight gain or loss is a function of various factors like genetics, medical issues, age, sleeping patterns, and even stress. So, lets not make fun of someone by using these names.

Cover Image Source

Read more:
Women Speak Out Against Body Shaming & Reveal Cruel Nicknames They Got For Their Weight - Storypick

[co-author: Drew McNeill]

Photo by National Cancer Institute on Unsplash

No painful procedure or biopsy needed. We can test our blood to diagnose and even predict cancer.

The Human Genome Project, a joint effort between the U.S. Department of Energy and the National Institutes of Health, began in 1990 and was completed in 2003. The goal of the Project was to map all the genes of the human DNA. Genomic medicine has come a long way since then. In 2020, we can test a cancer patients blood (via liquid biopsy) to direct personalized medical decisions about treatment.

Liquid biopsy can also identify individuals with, or at risk for, hereditary cancers. Clinicians routinely use germline (hereditary) DNA genetic testing to inform clinical decisions surrounding cancer treatment and surveillance. For example, identification of a germline pathogenic variant in BRCA1 in a female patient with breast cancer could be the determining factor in her decision to pursue bilateral mastectomy vs lumpectomy or her eligibility for a particular therapy. But DNA testing alone is often inconclusive, with anywhere from 2% to 44% of identified variants classified as variants of uncertain significance (VUS). Now, pairing it with RNA genetic testing has provided a breakthrough, by resolving a substantial proportion of VUS either as benign or pathologic. RNA genetic testing can also identify mutations that DNA-only genetic testing misses.

Its not just a lab theory. Pairing +RNAinsight with hereditary cancer DNA tests, Ambry Genetics has offered a commercially available concurrent RNA and DNA genetic testing for hereditary cancer risk since 2019. In a pilot study, clinicians reported that RNA/DNA testing changed clinical recommendations for 44% of patients and 78% of families, compared to DNA testing results alone. In addition to the technical advantages discussed above, there is a practical advantage of concurrent testing as compared to sequential testing: In sequential testing, 90 percent of patients dropped out after DNA testing without sending in samples for RNA testing.

Its all fascinating from a scientific perspective, but how does it matter in a lawsuit?

Say you are involved in a medical malpractice case or a product liability case related to cancer. Determining where the cancer originated is often the first step because it helps understand if the defendants product or services had something to do with the plaintiffs cancer and/or outcome. But it is sometimes impossible to tell where a patients cancer originated. Advanced imaging techniques (like CT and PET scanning) have been helpful, but the primary (originating) site of some cancers still remain unknown. In some of those difficult cases, liquid biopsies may be able to help solve the mystery.

And there is sometimes a question of what caused the cancer. As discussed above, knowledge of genetic mutations linked to a hereditary likelihood of getting cancer, like a BRCA1 mutation causing breast cancer, is growing. Inherited or not, knowledge linking genetic mutations and mutation patterns to various features of cancer (tissue type, cell type, primary site, etc.) or patient profile (age, sex, race, exposure to certain carcinogens, etc.) is also growing. Genetic testing may even provide evidence of an independent cause of cancer, unrelated to the defendants product or service.

Also, genetic testing may reveal a patients genetic mutations that could cause other cancers or other significant diseases (autoimmune diseases, dementia, etc.). Even when the defendants product or services were related to the plaintiffs cancer or outcome, genetic mutations that would likely have shortened the plaintiffs lifespan and/or significantly worsened their future quality of life may impact damages to which that plaintiff may be entitled.

As medical knowledge advances, lawyers must keep pace. The rules of ethics require lawyers to be competent for litigators, to have the necessary understanding to properly prosecute their clients claims, or defend their clients from poorly-founded claims. Understanding the implications of genetic testing would then be not only helpful, but also necessary, for litigators going forward.

[View source.]

Here is the original post:
Genomic Medicine is Knocking on the Courtroom Door - JD Supra

Two leading edge, female-led Canadian DNA testing companies partner to offer the most comprehensive combination of DNA tests, providing personalized health recommendations on the best diet, exercise, lifestyle and medication regimen for their clients based on their unique genetics.

dnaPower Inc, a biotechnology company that offers DNA testing for health and wellness, announces their partnership with Inagene Diagnostics. Inagene Diagnostics is a DNA testing company that uses genetic information to predict response to medications commonly used to treat pain and mental health conditions. These two Canadian DNA testing companies have joined forces to crack the code on personalized healthcare, empowering people to take control of their health and live their best lives.

dnaPower is committed to helping people make better data-driven decisions about their day to day health using genetics. We are delighted to be partnering with Inagene, a strong female-led, Canadian DNA company to include their pharmacogenetic testing.In addition to providing tailored health solutions for your diet, exercise and lifestyle, we can now add the ability to identify the medications best suited for your body to keep you safe and get the best health outcome. Dr. Lois Nahirney, CEO, dnaPower Inc.

Through their partnership, dnaPower and Inagene offer a suite of tailored health solutions for anyone looking to maximize insights to optimize their health. Comprehensive DNA testing is available for preventative health and medical treatment optimization. Personalized insights include tailored diet, exercise, lifestyle recommendations, and medications to optimize ones treatment plan based on their genetic information. Together, these powerful genetic insights act as a biological roadmap to help individuals navigate their best health.

Advancements in technology have opened up a world of opportunities to personalized healthcare in ways never seen before. There is no one size fits all solution when it comes to health. Unique genes can respond differently to foods, types of exercise, and medications. Spending years through trial and error to find the best diet, exercise, and medication is a way of the past. Individuals can now enjoy the ability to take control of their health without the guesswork through genetic testing.

We are excited and proud to partner withdnaPower another leading-edge Canadian company! Our teams care deeply about helping clients and are passionate about bringing innovation and personalized medicine to consumers. Helping individuals and their healthcare providers determine which drug and dose will work best, with less trial and error, is just part of the equation; the opportunity to learn what diet and exercise regimen works best for you, further enhances the client experience. Nancy White, CEO, Inagene Diagnostics.

To celebrate their partnership, dnaPower and Inagene are offering a combined special on their DNA tests. The Ultimate Insights Package includes the suite of dnaPower and Inagene DNA tests at the incredible price of $648 (retail value $1495). See this special offer.

Together, dnaPower and Inagene are passionate about empowering individuals to control their health with genetic testing, sharing a unified principle that knowledge is power.

About Inagene Diagnostics

With over two decades of experience in genetic research and diagnostics, combined with over 30 years of commercial health experience, Inagene has witnessed and been a part of the growing technology that now makes personalized healthcare possible. Inagene believes patients are not simply seeking more information, but practical and individualized information they can use to help make the best decisions about their health. Inagene Personalized InsightsTM makes it easy for patients and health care practitioners to navigate to the safest and most effective treatment options for medications used for pain and mental health conditions, and steer clear of those that arent.

About dnaPower Inc

dnaPower was one of the first in the world to offer DNA health testing, launching in 2008. They saw enormous potential for new DNA technology to help support peoples health and wellness, particularly in diet and fitness. dnaPower was a pioneer in applying leading-edge gene research to develop targeted gene panels. Since then, they have been providing personalized testing and professional support to help people like you make better, data-driven decisions about your health. With years of experience, dnaPower provides clear results and specific recommendations to help you take proactive and positive action for your unique body.

More here:
Cracking the code to live your best life: Canadian DNA testing companies, dnaPower and Inagene, partner to unlock true personalized health through...

A prisoner shines a light from a window at an LA ICE detention center.

Last week, Dawn Wooten became the latest whistleblower regarding the treatment of migrants inside US Immigration and Customs Enforcement (ICE) facilities. A former detention center nurse, Wooten filed a claim with the Department of Homeland Security claiming that mass hysterectomies were being performed on women without their full consent and sometimes, without their knowledge.

These allegations rightfully shocked many, as politicians, celebrities and social media users drew comparisons between ICE conditions and Nazi Germany. But forced sterilization in America is not a random imitation of Nazi's eugenic history; it's a vile continuation of our own. In fact, it was California's mass sterilization in the 1920s, then recorded by the Eugenics Record Office, that in part helped form Hilter's blueprint for racial purification in Germany. Eugenics is the belief that the human species can be improved by preselecting those with "desirable" traits to reproduce in an effort to "breed out" disease, criminal traits, and mental illness.

In the early 1900s, sterilization in America thrived through federally funded programs used to control growing Asian and Mexican immigrant populations in the west and Black populations in the south. Originally targeting "undesirable" genes in people with criminal records and mental illnesses, it strategically evolved to include immigrants, people of color, and low-income citizens soon after. These programs purposefully sought out the most vulnerable communities, with victims who legally and financially could not fight against a government that had already predetermined their fate.

Below is a brief timeline of our country's history with sterilization, which has disproportionately affected women of color for more than 100 years.

The Eugenics movement enters the American political and economic system in an effort to eliminate "unfavorable" genetics of people with disabilities and those perceived as "socially inferior."

Michigan is the first state to introduce a compulsory sterilization bill. It does not pass.

Pennsylvania passes a sterilization bill that is later vetoed.

Indiana becomes the first state to legally pass eugenics laws and mandate sterilization of the "feebleminded," criminals, and "imbeciles."

By this year, 12 states, including California, Connecticut, and Washington, have some form of sterilization legislation in place.

By this time, 3,000 people have already been involuntarily sterilized in the country since the eugenics movement began.

Virginia's Eugenical Sterilization Act is signed into law under the guidance of Dr. Albert Priddy, the first superintendent of the Virginia Colony for Epilectics. Later that year, Priddy presents 18 subjects (all women) for a sterilization case study. The first proposed subject is Carrie Buck a 17-year-old pregnant girl who was raped by her foster family's nephew.

In Buck v. Bell, the Supreme Court approves the sterilization of individuals in all public institutions showcasing characteristics of "imbecility, epilepsy, and feeblemindedness." This included Priddy's first subject case, Buck, who became the first patient in America to face a legally mandated sterilization.

Sterilization begins in Puerto Rico. Approximately one-third of all Puerto Rican women were sterilized up until the 1970s.

Elaine Riddick, a 14-year-old Black girl in North Carolina is recommended for sterilization by a social worker after being raped. Her procedure is signed with an "x" by her illiterate grandmother, who was not informed of the procedure.

A five-person committee in North Carolina begins a sterilization program that lasts 45 years, sterilizing over 7,600 women, children, and men of color.

Two Black, mentally disabled sisters, Mary Alice Relf, 14, and Minnie Relf, 12, are sterilized without consent in Alabama after doctors tell their illiterate mother they were receiving birth control shots.

The Relf v. Weinberger case draws nationwide attention to the 100,000-150,000 people being involuntarily sterilized each year across the country.

By this year, 20 to 25 percent of Indigenous women have undergone forced sterilization in America since 1970.

In Madrigal v. Quilligan, the Supreme Court sides with Los Angeles County USC Medical Center, refusing to acknowledge coercion used to sterilize 10 female Mexican-American patients, despite a whistleblower going on the record.

By this year, California is responsible for 20,000 sterilization procedures, the highest number of any state.

Since 2006, almost 150 female prisoners in California have been secretly and illegally sterilized.

The Eugenics Compensation Act is signed into law to provide protections and reparations for victims.

As you can see, this is a devastating history, and one that isn't widely known. These eugenics methods were intentional tactics to disrupt the history and lineage of families and cultures. This drive to control marginalized groups, especially women of color, still has roots in our reproduction rights and decisions today.

If you're interested in learning more about America's history of sterilization, documentaries are a great place to start. I recommend watching The Eugenics Crusade (available on PBS and Amazon Prime) about the origins of eugenics and its role in American history. To learn how sterilization affected women specifically, No Ms Bebs (available on PBS) is a documentary about California's history of sterilizing Latina women, and Belly of the Beast is a documentary about the recent sterilizations in California's female prisons, premiering next month.

Here is the original post:
America's Ugly History With Selective Sterilization Against Women of Color - POPSUGAR

Despite being at opposite ends of the Earth, Iceland and New Zealand have many similarities. Both are small island nations, heavily reliant on tourism and currently led by young female prime ministers.

Both countries have also been commended for their responses to the COVID-19 pandemic, characterised by science-informed policy and a high degree of public trust.

At the moment, Iceland and New Zealand have some of the lowest COVID-19 deaths per capita among OECD countries (2.83 and 0.51 per 100,000 population, respectively, compared with an OECD average of 24.01 per 100,000).

Both have been rated in the top 14 safest countries in the world for COVID-19.

But since the first cases were identified in each country in late February 2020, the two nations have taken different pathways in their COVID-19 responses. What lessons can we learn from their journeys so far?

New Zealand is one of the few countries to openly declare a COVID-19 elimination strategy. This involved a progressively strengthened contact-tracing and isolation system, with early and stringent use of shutdowns and border controls.

A nationwide shutdown was instigated on March 26 soon after community transmission was first demonstrated in the country and before any deaths had occurred. Alongside the shutdown, the border was closed to all but New Zealand citizens and residents.

A 14-day quarantine in managed facilities was implemented for all new arrivals. These border controls have continued to today despite the huge impact on the tourism industry.

Read more: Research shows Mori are more likely to die from COVID-19 than other New Zealanders

New Zealands go hard and go early strategy proved to be more effective than most had anticipated. The country moved back to its lowest alert level on June 8, after only seven weeks of shutdown.

On August 11, after more than 100 days with no community transmission of COVID-19, a cluster of cases not linked to other known case was detected in Auckland. This outbreak is still being contained and no source has yet been identified.

The response from the government was immediately to reinstate stay-at-home orders in Auckland, raise the alert level for the rest of the country, and further tighten systems at the border and in quarantine and isolation facilities.

Key to management of this resurgence was the use of rapid genome sequencing and a new requirement for mask use when travelling on public transport.

Read more: Genome sequencing tells us the Auckland outbreak is a single cluster except for one case

In contrast to New Zealand, Icelands strategy involved no shutdown period, no official border closure to non-residents, and negligible use of managed quarantine facilities.

The aim instead is to mitigate infection so it does not overwhelm the health-care system, and to keep the numbers as low as possible. As in New Zealand, there is a new requirement for wearing face masks when travelling on public transport and where physical distancing is difficult.

The cornerstone of Icelands response has been easy access to COVID-19 testing and mass screening, alongside quarantine and contact tracing. This was enabled by a public-private partnership between the Icelandic health authorities, the National University Hospital of Iceland and local biopharmaceutical company deCODE Genetics.

At one stage, Iceland was performing more tests per head of population than any other country.

As Iceland became free of community transmission of COVID-19 in mid-May, pressure grew from the tourism industry and other stakeholders to reduce the 14-day quarantine policy for new arrivals into the country.

In response, a controversial new border screening program was implemented on June 15. This required all incoming travellers to be tested once for COVID-19 on arrival and then urged to self-quarantine until results came back, usually within 24 hours.

As a consequence, tourism in June and July exceeded all expectations in Iceland.

But increasing community transmission, with several clusters arising from travellers who had tested negative on arrival prompted a stepwise tightening of the border system.

Since August 19, all incoming travellers have had to undergo mandatory self-quarantine, during which they need to return two negative COVID-19 tests at least five days apart.

The change to this two-test strategy proved to be a wise move, as 25 (20%) of the 126 active infections in inbound travellers were detected only by the second test.

Although they adopted different strategies, both Iceland and New Zealand demonstrate the importance of decisive, science-informed decision-making and clear communication involving regular public briefings by senior officials.

Read more: COVID-19 is not the only infectious disease New Zealand wants to eliminate, and genome sequencing is a crucial tool

As a consequence, high levels of public trust have been recorded in both Iceland and New Zealand although this has varied through the pandemic.

The prominent role of scientists, the use of multi-institutional collaborations as part of COVID-19 response strategies, and the willingness to adapt to new knowledge have also been key features for both countries.

Only time will enable a full assessment of each countrys COVID-19 strategy. More than ever, the global community needs to learn from each others experiences, avoid dogmatism and be adaptable in our national responses as we navigate a path out of this pandemic.

Read more here:
COVID-19 and small island nations: what we can learn from New Zealand and Iceland - The Conversation AU

Its uncontroversial among biologists that many species have two, distinct biological sexes. Theyre distinguished by the way that they package their DNA into gametes, the sex cells that merge to make a new organism. Males produce small gametes, and females produce large gametes. Male and female gametes are very different in structure, as well as in size. This is familiar from human sperm and eggs, and the same is true in worms, flies, fish, molluscs, trees, grasses and so forth.

Different species, though, manifest the two sexes in different ways. The nematode worm Caenorhabditis elegans, a common laboratory organism, has two forms not male and female, but male and hermaphrodite. Hermaphroditic individuals are male as larvae, when they make and store sperm. Later they become female, losing the ability to make sperm but acquiring the ability to make eggs, which they can fertilise with the stored sperm.

This biological definition of sex has been swept up into debates over the status of transgender people in society. Some philosophers and gender theorists define a woman as a biologically female human being. Others strongly disagree. Im addressing those who reject the very idea that there are two biological sexes. Instead, they argue, there are many biological sexes, or a continuum of biological sexes.

Theres no need to reject how biologists define the sexes to defend the view that trans women are women. When we look across the diversity of life, sex takes stranger forms than anyone has dreamt of for humans. The biological definition of sex takes all this in its stride. It does so despite the fact that there are no more than two biological sexes in any species youre likely to have heard of. To many people, that might seem to have conservative implications, or to fly in the face of the diversity we see in actual human beings. I will make clear why it does not.

I call this the biological definition of sex because its the one biologists use when studying sex that is, the process by which organisms use their DNA to make offspring. Many philosophers and gender theorists will protest at making the creation of offspring foundational to how we define sex or distinguish different sexes. Theyre surely right that sex as a social phenomenon is much richer than that. But the use of DNA to make offspring is a central topic in biology, and understanding and explaining the diversity of reproductive systems is an important scientific task. Gender theorists are understandably worried about how the biology of sex will be applied or misapplied to humans. What they might not appreciate is why biologists use this definition when classifying the mind-stretching forms of reproduction observed in limpets, worms, fish, lizards, voles and other organisms and they might not understand the difficulties that arise if you try to use another definition.

Many people assume that if there are only two sexes, that means everyone must fall into one of them. But the biological definition of sex doesnt imply that at all. As well as simultaneous hermaphrodites, which are both male and female, sequential hermaphrodites are first one sex and then the other. There are also individual organisms that are neither male nor female. The biological definition of sex is not based on an essential quality that every organism is born with, but on two distinct strategies that organisms use to propagate their genes. They are not born with the ability to use these strategies they acquire that ability as they grow up, a process which produces endless variation between individuals. The biology of sex tries to classify and explain these many systems for combining DNA to make new organisms. That can be done without assigning every individual to a sex, and we will see that trying to do so quickly leads to asking questions that have no biological meaning.

While the biological definition of sex is needed to understand the diversity of life, that doesnt mean its the best definition for ensuring fair competition in sport or adequate access to healthcare. We cant expect sporting codes, medical systems and family law to adopt a definition simply because biologists find it useful. Conversely, most institutional definitions of sex break down immediately in biology, because other species contradict human assumptions about sex. The United States National Institutes of Health (NIH) uses a chromosomal definition of sex XY for males and XX for females. Many reptiles, such as the terrifying saltwater crocodiles of northern Australia, dont have any sex chromosomes, but a male saltie has no trouble telling if the crocodile that has entered his territory is a male. Even among mammals, at least five species are known that dont have male sex chromosomes, but they develop into males just fine. Gender theorists have extensively criticised the chromosomal definition of human sexes. But however well or badly that definition works for humans, its an abject failure when you look at sex across the diversity of life.

The same is true of phenotypic sex, the familiar idea that sex is defined by the typical physical characteristics (phenotypes) of males and females. Obviously, this approach will produce completely different definitions of male and female for humans, for worms, for trees and so forth. Incubating eggs inside your body, for example, is a female characteristic in humans but a male one in seahorses. That doesnt mean that human institutions cant use the phenotypic definition. But it isnt useful when studying the common patterns in the genetics, evolution and so forth of female humans, female seahorses and female worms.

Understanding the complex ways in which chromosomes and phenotypes relate to biological sex will make clear why the biological definition of sex shouldnt be the battleground for philosophers and gender theorists who disagree about the definition of woman. There might be very good reasons not to define woman in this way, but not because the definition itself is poor biology.

Why did sexes evolve in the first place? Biologists define sex as a step towards answering this question. Not all species have biological sexes, and biology seeks to explain why some do and others dont. The fact that no species has evolved more than two biological sexes is also a puzzle. It would be quite straightforward to engineer a species that has three, but none has evolved naturally.

Many species reproduce asexually, with each individual using its own DNA to create offspring. But other species, including our own, combine DNA from more than one organism. Thats sexual reproduction, where two sex cells gametes merge to make a new individual. In some species, these two gametes are identical; many species of yeast, for example, make new individuals from two, identical gametes. They reproduce sexually, but they have no sexes, or, if you prefer, they have only one sex. But in species that make two different kinds of gamete and where one gamete of each kind is needed to make a new organism there are two sexes. Each sex makes one of the two kinds of gamete.

In complex multicellular organisms, such as plants and animals, these two kinds of gamete are very different. One is a large, complex cell, what wed typically call an egg. Its similar to the eggs produced by asexual species, which can develop into a new organism all on their own. Many species of insect and some lizards, snakes and sharks can reproduce using just an egg cell. The other kind of gamete is a much smaller cell that contains very little beyond some DNA and some machinery to get that DNA to the larger gamete. We are familiar with these two kinds of gametes from human eggs and sperm.

Theres no obvious reason why complex multicellular organisms need to have two kinds of gamete, or why these two kinds are so different in size and structure. Its perfectly possible to make three or more different kinds of gamete, or gametes that vary continuously, just as people vary continuously in height. One question that biologists seek to answer, then, is why those forms of sexual reproduction arent observed in complex organisms such as animals and plants.

Earthworms are hermaphrodites: one part of the worm produces sperm and another part produces eggs

When a species produces two different kinds of gamete, biologists call this anisogamy, meaning not-equal-gametes. Some anisogamic species have separate sexes, like humans do, where each individual can produce only one kind of gamete. Other anisogamic species are hermaphrodites, where each individual produces both kinds of gamete. Because they produce two kinds of gametes, hermaphroditic species still have two biological sexes they simply combine them in one organism. When a biologist tells you that earthworms are hermaphrodites, they mean that one part of the worm produces sperm and another part produces eggs.

Some single-celled and very simple multicellular organisms have evolved something called mating types. These are gametes that are identical in size and structure, but in which the genome of each gamete contains genetic markers that affect which other gametes it can combine with. Typically, gametes with the same genetic marker cant recombine with one another. Some species have many hundreds of these mating types, and newspapers often report research into this phenomenon under headlines such as: Scientists discover species with hundreds of sexes! But, formally, biologists refer to these as mating types, and reserve the term sexes for gametes that are different in size and structure.

Why distinguish between these two phenomena? One reason is that the evolution of anisogamy gametes that differ in size and structure explains the later evolution of sex chromosomes, sex-associated physical characteristics and much more. But the existence of mating types doesnt have these dramatic knock-on evolutionary effects. Another reason to keep the distinction is that anisogamy and mating types are thought to have evolved via different evolutionary processes. One theory is that anisogamy appeared when mating-type genome markers somehow became linked to genes that controlled the size of the gamete, or mutated in some way that affected gamete size. These differences in gamete size would then kickstart the evolution of sexes.

The evolution of sex seems to be strongly associated with multicellularity, so the obvious place to look for a shift from mating types to sexes is in organisms that sit at the multicellular boundary such as algae, which sometimes exist as single-celled organisms, and sometimes as colonies of cells. And indeed, there are species of algae where gametes are just a little bit anisogamous, blurring the distinction between mating types and sexes. Theres much we dont know about how sex evolved, and how it might have evolved differently across species. But the point is that sexes and mating types are very different phenomena, with different causes and consequences.

The fact that sex evolved in some species but not others tells us something important about how biologists think about sex. Many cultures take the difference between male and female to be something fundamental, and label other natural phenomena such as the Sun and the Moon as male or female. But for biologists, the separation between male and female is no more fundamental or universal than photosynthesis or being warm-blooded. Some species have evolved these things, and some havent. They exist when they do only because of the local advantages they afforded in evolutionary competition.

So why did some species evolve two, distinct sexes? To answer this question, we need to forget about creatures with complex sex organs and mating behaviours. These evolved later. Instead, think of an organism that releases its gametes into the sea, such as coral, or into the air, such as fungal spores. Next, consider that there are two goals that any gamete must achieve if its to reproduce sexually. The first is finding and recombining with another gamete. The second is producing a new individual with enough resources to survive. One widely accepted idea, then, is that the evolution of sexes reflects a trade-off between these goals. Because no organism has infinite resources, organisms can either produce many small gametes, making it more likely that some of them will find a partner, or produce fewer but larger gametes, making it more likely that the resulting individual will have what it needs to survive and thrive.

Since the 1970s, this idea has been used to model how anisogamic species might have evolved from species with only one kind of gamete. As mutations introduce differences in gamete size, two winning strategies emerge. One is to produce a large number of small gametes too small to create viable offspring unless they recombine with a larger, well-provisioned gamete. The other winning strategy is to produce a few, large, well-resourced gametes that can create viable offspring, no matter how small the recombinant they end up merging with. Intermediate approaches, such as producing a moderate number of moderately well-provisioned gametes, dont do well. Organisms that try to follow the middle way end up with gametes less likely to find a partner than smaller gametes, and more likely to have insufficient resources than larger gametes. When the two successful complementary strategies have evolved, fresh evolutionary pressures make the gametes even more distinct from one another. For example, it can be advantageous for the small gametes to become more mobile, or for the large, immobile gametes to send signals to the mobile ones.

Once anisogamy has evolved, it shapes many other aspects of reproductive biology. Most species of limpet shellfish that you see on rocks at the beach are sequential hermaphrodites. When young and small they are male, and when mature and large they become female. This is believed to be because small limpets dont have sufficient resources to produce large female gametes, but theyre capable of producing the smaller male ones. In some other species, successful males can arrest their growth and remain small (and male) for their entire life.

Chromosomes arent male or female because these bits of DNA define biological sex. Its the other way around

Sequential hermaphroditism occurs in the opposite direction too. Australian snorkellers love to spot the large blue males of the eastern blue groper, but its rare to see more than one. Most groper are smaller, brown females. They are all born female and become sexually mature after a few years, when 20 or 30 cm in length. At around 50 cm, they change sex and acquire other male characteristics, such as being blue. Unlike the limpet, the main problem facing a male groper is controlling a territory on the reef, so becoming male when youre small is a losing strategy.

Biology aims to understand the extraordinary diversity of ways in which organisms reproduce themselves, as well as to identify common patterns, and to explain why they occur. In general, organisms become sexually mature when they reach an optimal size for reproduction. This optimal size is often different for the two sexes, because the two sexes represent divergent strategies for reproduction. The limpet and the groper are two of many examples. In constructing these explanations, biological sex is defined as the production of one type of viable anisogamous gamete. If we defined sex in some other way, it would be hard to see the common patterns across the diversity of life, and hard to explain them.

So-called sex chromosomes, such as the XX and XY chromosome pairs seen in humans, are often brandished as something thats fundamental to sex. Its partly the inadequacy of this definition that drives scepticism about the existence of two, discrete biological sexes. Molecular genetics is likely to require a shift from binary sex to quantum sex, with a dozen or more genes each conferring a small percentage likelihood of male or female sex that is still further dependent on micro- and macroenvironmental interactions, writes the gender scholar Vernon Rosario.

But any biologist already knows that theres more to sex determination than chromosomes and genes, and that male and female sex chromosomes are neither necessary nor sufficient to make organisms male and female. Several species of mammal, all rodents of one kind or another, have completely lost the male Y chromosome, but these rats and voles all produce perfectly normal, fertile males. Other groups of species, such as crocodiles and many fish, have neither sex chromosomes nor any other genes that determine sex. Yet they still have two, discrete biological sexes. The Australian saltwater crocodile, whom we met before, lays eggs that are very likely to develop into gigantic, highly territorial males if incubated between 30 and 33 degrees Celsius. At other temperatures, genetically identical eggs develop into much smaller females.

The reality is that chromosomes arent called male or female because these bits of DNA define biological sex. Its the other way around in some species that reproduce using two discrete sexes, those sexes are associated with different bits of DNA. But in other species this association is either absent or unreliable. Medical institutions use a chromosomal definition of sex because they judge, rightly or wrongly, that this is a reliable way of categorising humans. But humans really arent the best place to start when trying to understand sex across the diversity of life.

So much for genes. But perhaps sex could be defined by the physical characteristics that organisms develop, which then add up to constitute an organisms sex? An organism with more female than male characteristics would be more female than male and vice-versa. Thats a reasonable way to think about sex, and this idea of phenotypic sex is widely used. But if we apply the biological definition of sex, some of the individuals who are in the middle as far as sex-associated characteristics go are bona fide members of one biological sex. Others are not clearly members of either biological sex.

Nothing in the biological definition of sex requires that every organism be a member of one sex or the other. That might seem surprising, but it follows naturally from defining each sex by the ability to do one thing: to make eggs or to make sperm. Some organisms can do both, while some cant do either. Consider the sex-switching species described above: what sex are they when theyre halfway through switching? What sex are they if something goes wrong, perhaps due to hormone-mimicking chemicals from decaying plastic waste? Once we see the development of sex as a process and one that can be disrupted it is inevitable that there will be many individual organisms that arent clearly of either sex. But that doesnt mean that there are many biological sexes, or that biological sex is a continuum. There remain just two, distinct ways in which organisms contribute genetic material to their offspring.

Whats more, the physical characteristics of an organism can be labelled as male or female only if there is already a definition of sex. Whats so male about a groper being blue as opposed to brown? Many male organisms are brown. Whats so female about incubating eggs in a womb? After all, in many pipefish and seahorse species the male incubates the eggs in his brood pouch. What makes this part of the hermaphroditic earthworm male and that part female? Gender studies scholars have noticed this logical discrepancy, and some have gone on to argue that the sexes must therefore be defined in terms of gender. But from a biological perspective, what makes an observable physical characteristic male or female is not its association with gender, but its association with something more tangible: the production of one or other of the two kinds of gamete.

This explains why the existence of individuals with combinations of male and female characteristics doesnt show that biological sex is a continuum. These organisms have a combination of characteristics associated with one biological sex and characteristics associated with the other biological sex. They do not have some part of the ability to make small gametes combined with some part of the ability to make large gametes. Their phenotypic sex might be intermediate, but their biological sex is not. Being fully biologically male and fully biologically female hermaphroditic can be an effective evolutionary strategy, and we have encountered several hermaphroditic species already. But making both kinds of gametes incompletely would be an evolutionary dead-end.

Like phenotypic characteristics, sex chromosomes can be more or less reliably associated with biological sex. The eastern three-lined skink, an Australian lizard, has sex chromosomes, and under some circumstances XY skinks become male and XX skinks become female, just as in humans. But in cold nests, every skink becomes male, whatever their chromosomes. By becomes male, biologists mean that they grow up to produce small gametes sperm.

No animal is conceived with the ability to make sperm or eggs (or both). This ability has to grow

This effect of temperature on sex is not surprising, as many reptile species produce genetically identical offspring whose sex is determined by incubation temperature. Whats more surprising is that varying the size of the egg yolk in this species of skink can produce both sexes with the wrong sex chromosomes: XX males and XY females. The skink seems to have three mechanisms for determining sex chromosomes, temperature and hormones in the yolk. This is not a mere quirk of nature. The skink is one of many species that actively control the sex of their offspring, responding to environmental cues that predict whether male or female offspring have better chances of surviving and reproducing.

If all species were like the skink, we probably wouldnt label sex chromosomes as male or female. After all, we dont think of extreme nest temperatures as female and intermediate temperatures as male, merely because they produce male and female crocodiles or male and female geckos. We think of sex chromosomes as male or female because we focus on species where they are reliably associated with the production of male or female gametes.

Sex chromosomes play much the same role in sex determination as nest temperatures and hormones. Theyre simply mechanisms that organisms use to turn genes on and off in offspring so that they develop a biological sex. No animal is conceived with the ability to make sperm or eggs (or both). This ability has to grow, through a cascade of interactions between genes and environments. In some species, once an individual acquires a sex, it remains that sex for the rest of its life. In others, individuals can switch sex one or more times. But in every case, the underlying mechanisms are designed to grow organisms that make either male or female gametes (or both). The other changes the body undergoes as it becomes male, female or hermaphroditic are designed to fit the reproductive strategies that this species has evolved.

These mechanisms by which organisms develop or switch biological sex are complex, and many factors can interfere with them. So they produce a lot of phenotypic diversity. Sometimes, organisms grow up able to make fertile gametes, but otherwise atypical for their biological sex. Sometimes, they grow up unable to make fertile gametes of either kind. This is usually an accident, but sometimes by design. In bees, eggs that arent fertilised develop into males, so male bees have half as many chromosomes as female bees. Meanwhile, all fertilised eggs start to develop into females, but most of them never complete their sexual development. The queen sends chemical signals that block the development of the worker bees ovaries at an early stage. So worker bees are female in the extended sense that they would develop into fertile females if they werent actively prevented from doing so. Occasionally, worker bees manage to evade these controls and lay their own eggs. They are not popular with beekeepers, who select against these mutant strains.

The diversity of outcomes in individual sexual development doesnt mean that there are many biological sexes or that biological sex is a continuum. Whatever the merits of those views for chromosomal sex or phenotypic sex, they are not true of biological sex. A good way to grasp this is to imagine a species that really does have three biological sexes. Biotechnologists have proposed curing mitochondrial diseases by removing the nucleus from an egg with healthy mitochondrial DNA, and inserting a new nucleus containing the nuclear DNA from an unhealthy egg and the nuclear DNA from a sperm. The resulting child would have three genetic parents.

Now imagine if there was a whole species like this, where three different kinds of gametes combined to make a new individual a sperm, an egg and a third, mitochondrial gamete. This species would have three biological sexes. Something like this has actually been observed in slime moulds, an amoeba that can, but need not, get its mitochondria from a third parent. The novelist Kurt Vonnegut imagined an even more complex system in Slaughterhouse-Five (1969): There were five sexes on Tralfamadore, each of them performing a step necessary in the creation of a new individual. But the first question a biologist would ask is: why havent these organisms been replaced by mutants that dispense with some of the sexes? Having even two sexes imposes many extra costs the simplest is just finding a mate and these costs increase as the number of sexes required for mating rises. Mutants with fewer sexes would leave more offspring and would rapidly replace the existing Tralfamadorians. Something like this likely explains why two-sex systems predominate on Earth.

We can also imagine a species where biological sex really does form a continuum. Recall that some algae have slightly anisogamous gametes, much closer together than sperm and eggs. We can imagine a more complex organism using this system, with some slightly smaller gametes and some slightly larger ones. Successful reproduction might require two gametes that, when added together, are big enough but not too big. But the sexually reproducing plants and animals that actually exist all have just two, very different kinds of gamete male and female. Theyre not merely different in size, theyre fundamentally different in structure. This is the result of competition between organisms to leave the greatest number of genetic descendants. In complex multicellular organisms such as plants and animals, we know of only three successful reproductive strategies: two biological sexes in different individuals, two biological sexes combined in hermaphroditic individuals, and asexual reproduction. Some species use one of these strategies, some use more than one.

Human beings have come up with many ways to classify the diversity of individual outcomes from human sexual development. People who want to apply the biological definition of sex to humans should recognise that its ill-suited to do what many human institutions want, which is to sort every individual into one category or another. What sex are worker bees? They are sterile workers whose genome was designed by natural selection to terminate ovary development on receipt of a signal from the queen bee. They share much of the biology of fertile female bees but if someone wants to know Are worker bees really female?, theyre asking a question that biology simply cant answer.

Nor is being a sterile worker a third biological sex alongside male and female. This is easier to see in ants, where there is more than one sterile caste. Workers, soldiers, queens and male flying ants each have specialised bodies and behaviour, but there are not four biological sexes of ant. Workers and soldiers are both female in an extended sense, but not in the full-blown sense that queen ants are female. There is a human imperative to give everything a sex, as mentioned above, but biology doesnt share it.

The biological definition of sex wasnt designed to ensure fair sporting competition, or settle healthcare disputes

Juvenile organisms and postmenopausal human females also cant produce either kind of gamete. Juveniles are assigned to the sex they have started to grow into. But once again, this is more complicated than it seems when we focus only on humans. In almost all mammals, sexual differentiation is initiated by a region of the Y chromosome, so a mammalian egg can become either male or female. In birds, its the other way around the egg carries the sex-determining W chromosome, so sperm can become either male or female. After fertilisation, therefore, we can say that an individual mammal or bird has a sex in the sense that it has started to grow the ability to produce either male or female gametes. With a crocodile or a turtle, though, wed have to wait until nest temperature had its sex-determining effect. But that doesnt mean that we need to create a third biological sex for crocodile eggs!

More importantly, nothing guarantees that any of these organisms, including those with sex chromosomes, will continue to grow to the point where they can actually produce male or female gametes. Any number of things can interfere. From a biological point of view, there is nothing mysterious about the fact that organisms have to grow into a biological sex, that it takes them a while to get there, and that some individuals develop in unusual or idiosyncratic ways. This is a problem only if a definition of sex must sort every individual organism into one sex or another. Biology doesnt need to do that.

In human populations, there are plenty of individuals whose sex is hard to determine. Biologists arent blind to this. The definition of biological sex is designed to classify the human reproductive system and all the others in a way that helps us to understand and explain the diversity of life. Its not designed to exhaustively classify every human being, or every living thing. Trying to do so quickly leads to questions that have no biological meaning.

Human societies cant delegate to biology the job of defining sex as a social institution. The biological definition of sex wasnt designed to ensure fair sporting competition, or to settle disputes about access to healthcare. Theorists who want to use the biological definition of sex in those ways need to show that it will do a good job at the Olympics or in Medicare. The fact that its needed in biology isnt good enough. On the other hand, whatever its shortcomings as an institutional definition, the concept of biological sex remains essential to understand the diversity of life. It shouldnt be discarded or distorted because of arguments about its use in law, sport or medicine. That would be a tragic mistake.

The authors research is supported by the Australian Research Council and the John Templeton Foundation. He would also like to thank Nicole Vincent, Jussi Lehtonen, Stefan Gawronski and Joshua Christie for their feedback on earlier drafts.

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Sex is real - aeon.co

Twenty-two research projects led by researchers from the Faculty of Medicine and affiliated health authority research centres were awarded $15 million from the Canadian Institute of Health Research Project Grant Spring 2020 competition.

The Project Grant program supports researchers in building and conducting health-related research and knowledge translation projects, covering all areas of health.

In addition to the Project Grant Spring 2020 competition, one Faculty of Medicine project was awarded a priority announcement bridge grant of $100,000.

Pilot RCT for cognitive-behavioural & mindfulness-based online programs for female sexual dysfunctionUBC Principal Investigator: Dr. Lori Brotto, department of obstetrics & gynaecology

Identification of HOXB13 inhibitors to treat castrate-resistant prostate cancerUBC Principal Investigators: Dr. Martin Gleave, department of urologic sciences, Nathan Lack, department of urologic sciences

Predicting and Evaluating Anal Cancer in HIV with novel biomarkers: The PEACH StudyUBC Principal Investigators: Dr. Jonathan (Troy) Grennan, department of medicine

A randomized trial of doxycycline chemoprophylaxis for the prevention of sexually transmitted infections in gay, bisexual and other men who have sex with men (gbMSM)UBC Principal Investigators: Dr. Jonathan (Troy) Grennan, department of medicine, Mark Hull, department of medicine

Chronic diseases in mothers and risks of neuro-developmental disorders in offspring: an international comparisonUBC Principal Investigator: Dr. K. S. Joseph, School of Population and Public Health

Novel endothelial engineering and localized immunosuppression approaches for the protection of organ transplantsUBC Principal Investigators: Dr. Jayachandran Kizhakkedathu, department of pathology and laboratory medicine

Childhood Epigenetic Age Deviations and Developmental Differences (CEAD3)UBC Principal Investigator: Dr. Michael Kobor, department of medical genetics

Characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.UBC Principal Investigator: Dr. Blair Leavitt, department of medical genetics

Improving clinical practice recommendations for late preterm antenatal corticosteroids: incorporating a decision support tool to tackle the uncertain balance of risks and benefitsUBC Principal Investigator: Dr. Jessica Liauw, department of obstetrics & gynaecology

Enterovirus subversion of the autophagy pathwayUBC Principal Investigator: Dr. Honglin Luo, department of pathology and laboratory medicine

Reducing unsafe prescribing of prescription opioid medications to opioid nave patientsUBC Principal Investigators: Dr. Rita McCracken, department of family practice, Evan Wood, department of medicine

Maternal exposures during pregnancy as drivers of susceptibility to allergic asthma and Th2 inflammation.UBC Principal Investigator: Dr. Kelly McNagny, department of medical genetics

Self-Management for Amputee Rehabilitation using Technology (SMART) program: A peer supported mHealth approach for rehabilitation after lower limb amputationUBC Principal Investigators: Dr. William Miller, department of occupational science and occupational therapy, Maureen Ashe, department of family practice, William Mortenson, department of occupational science and occupational therapy, Michael Payne, medical microbiology

Evaluating tetrahydrocannabinol as an adjunct to opioid agonist therapy for individuals living with opioid use disorder: A Phase II, placebo-controlled, blinded, pilot study to assess safety and feasibilityUBC Principal Investigator: Dr. Michael-John Milloy, department of medicine

Engaging and retaining marginalized populations in primary health care in the downtown east side of VancouverUBC Principal Investigator: Dr. David Moore, department of medicine

Improved Assessment of Disease in Lymphoma Patients using Quantitative PET ImagingUBC Principal Investigator: Dr. Arman Rahmim, department of radiology

Delineating between pathophysiologic phenotypes of hypoxic ischemic brain injury after cardiac arrestUBC Principal Investigator: Dr. Mypinder Sekhon, department of medicine

Tissue resident and migratory group 2 innate lymphoid cells in health and diseaseUBC Principal Investigator: Dr. Fumio Takei, department of pathology & laboratory medicine

Neuro-cardiac predictors of treatment response to rTMS in depression: a mechanistic study using interleaved TMS-fMRIUBC Principal Investigator: Dr. Fidel Vila-Rodriguez, department of psychiatry

Low frequency repetitive transcranial magnetic stimulation (TMS) vs. intermittent Theta Burst Stimulation TMS effectiveness in depression and suicidal ideation: a randomized non-inferiority trialUBC Principal Investigator: Dr. Fidel Vila-Rodriguez, department of psychiatry

The role of PRDM16 in neuroendocrine prostate cancer development and aggressivenessUBC Principal Investigator: Dr. Yuzhuo Wang, department of urologic sciences

A prospective and longitudinal investigation of concussive and subconcussive mild traumatic brain injury mechanisms in ice hockeyUBC Principal Investigators: Dr. Alexander Rauscher, department of pediatrics, Lyndia (Chun) Wu, Faculty of Applied Science, Paul van Donkelaar, Faculty of Health and Social Development

Understanding Human Primary Atopic Disorders (Priority Announcement:Skin Conditions)UBC Principal Investigators: Dr. Stuart Turvey, department of pediatrics, Catherine Biggs, department of pediatrics

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Faculty of Medicine researchers receive $15M from CIHR's Project Grant program - UBC Faculty of Medicine

American economistMilton Friedmanrevealed that the secret to success in a capitalistic world lies in learning to play within the rules of the game. Business leaders have often clamored around this truth when playing the centuries-old game of economic strategy: a game, wherein the only rules involve engaging in open and free competition without deception or fraud.

This may be the case for those at the top of Americas societal hierarchy the wealthy, white men who reign over boardrooms and political podiums alike, dominating the most powerful positions for most of Americas history.

Yet for women, this is not, and has never been, completely true.

As the COVID-19 pandemic began to squeeze women from the US workforce, so too increased the news medias scrutiny on the unequal playing field faced by women in the workforce. However, long before the pandemic hit, women in the American workforce faced a much more difficult path to the top.

Women engage in a second kind of game; a game quietly played beneath the surface, like a secret handshake to an underground society wherein an invisible set of rules apply.

The idea is to be effective yet not too assertive. Be pleasant and agreeable without seeming too soft. Remember to be charming so people dont feel threatened by your ideas or your intelligence. Dont talk too loud. Dont talk too much. Dress in a way that is neither too feminine nor too masculine. Be empathetic but never emotional.

And for a woman of color, these rules are even more mysteriousand harder to discern. A woman of color constantly battles the widely preconceived notion that either by dint of genetics or environment her knowledge and abilities are lesser than others.

Yet her success also hinges on being pleasant, articulate, gregarious, and putting everyone at ease in her presence, lest she be deemed angry or dispensable. But above all else regardless of race or ethnicity a woman must always come to the boardroom or the podium wielding her best, most disarmingsmile.

We are so deeply entrenched in these beliefs that we unwittingly became our own gatekeepers.

Recently, one of us returned from a photo shoot for an award honoring trailblazing female leaders. The resulting photos showed a commanding businesswoman sitting at a boardroom table, flanked by two male colleagues. She was clearly and confidently assuming a leadership role. However, the photos engendered an overwhelming fear. The photos seemed to say, I dont look warm or likable enough.

The charming mask so often worn by women to appear less threatening had slipped, and the resulting photos revealed a powerful businesswoman. The fear of being rejected for looking overtly powerful is something a man would never consider.

Even the strongest, most accomplished women leaders cant escape these cultural expectations. While admired by many for her stoic strength, razor-sharp intellectualism, and unrelenting toughness,Kamala Harrisrecently came under fire just hours before winning the spot asJoe Bidens running mate. News coverage was riddled with sexist attacks on Harris lack of personal charm and warmth.

Unfortunately, Harris is just one of the many female political casualties. Bashed with sexist barbs due to perceived lack of likability and warmth, these women Hillary Clinton,Sarah Palin,Elizabeth Warren, to name a few disappeared in the public court of opinion.

For these women, the need for striking the perfect balance between being assertive without being bossy surpasses the need for intelligence, professional achievements, and even their policy.

Women at the top of their industry have found that to be successful in todays America means being smart and extremely effective but never so overtly as to bruise an ego.

Just ask the likes of fierce former CEO of Hewlett-Packard,Carly Fiorina, fashion mogulVictoria Beckham, and sports iconSerena Williamshow often they have been found lacking by the media for their inability to smile like women.

As we look to a near future in which the pandemic will most assuredly continue to hit women in the workforce the hardest there should be no doubt that now is the time to dissolve this game and strip ourselves of these subtle yet deeply ingrained rules that govern it.

To fully tap into the potential of womens strength, women must first endeavor to change the way we speak, worrying less about deliverance and more about the content of our words. This means being unfiltered, speaking unapologetically, refusing to let others speak for us. Perhaps even changing speech patterns rather than softening our voices, we must speak with a tone of authority.

This new approach boils down to a simple rule women need to remember: being likable is not our sole mission.

While it must be every womans goal to unapologetically toss aside the archaic rulebook that shapes our idea of the successful female leader, it is not just women who need to change. We must look into our culture, starting with how we raise our children.

For example, rather than solely emphasizing obedience, cooperation, and supportiveness, society must encourage girls to share their opinions, take risks, assume leadership roles, solve problems and praise them when they do so.

If we want more female leaders, we need to vote for them, support their business, and shine the light on female role models who are unapologetically using their voices to drive change.

The most important culture shift is also the simplest. We must all shift to hear what women have to say. We need to listen instead of scrutinizing. Allow women to express their ideas regardless of their looks or the way they speak. When we are able to support women based on their ability to lead, vision, and strategy rather than their people-pleasing demeanor we can all smile.

The opinions expressed herein are those of the authors and not of New York Medical College.

Here is the original post:
Want More Women in Leadership Roles? Focus on Their Strategy and Not Their Smile - The Globe Post

If youre a woman, youre probably intimately familiar with the abdominal pain and cramps that pop up once a month during your period. Generations of women have been taught that its normal to feel menstrual painbut a new wave of doctors say thats not always the case: Sometimes, pelvic pain can be a sign of a serious condition called endometriosis, and if you dont address it quickly, your future fertility could be at risk. These are some of the signs and symptoms that something more than just period pain is going on.

To understand endometriosis, first you need to know about the endometrium: Thats the lining inside the uterus that builds up once a month to allow for the implantation of a fertilized egg in the womb. If theres no fertilized egg, theres no need for a cushy lining, so the body sheds that layeralso know as having your period if youre a woman. Whats shed is a mixture of blood, vaginal secretions, and endometrial cells.

But sometimes, the blood flow gets mixed up, and instead of flowing out, it flows up, going back through the fallopian tubes and into the pelvis. Endometrial cells that mistakenly ended up in the pelvis can attach onto its walls, as well as the outside of the uterus, the fallopian tubes, or any of the organs within the pelvis. Those adventurous cells arent where theyre supposed to be, but they still try to perform the task they were designed for, and that is to collect blood to form a lining and release the blood if theres no baby on board.

Thats what endometriosis is: The growth of endometrial cells and development of thick tissue outside of the uterus that can lead to inflammation, lesions, and scarring. This tissue can grow on other organs, reducing blood flow and raising the risk of fertility issues. Endometriosis can cause intense painor none at all.

The biggest risk factor for this condition is being female (not much you can do there!). There also seems to be a genetic component involved, so if your mother, aunt, or sisters have endometriosis, you have a higher likelihood of getting it, too.

Experts estimate that 11% of reproductive-age women have endometriosis worldwide, yet here in the U.S., it can take up seven to 12 years for a proper diagnosis. That decade of pain can be attributed to a mix of factors, including limited access to care, a stigma around pelvic pain and menstruation-related complaints, and doctors who dont fully understand how to treat it.

Experts suspect endometriosis is caused by something know as retrograde menstruation. This is when menstrual fluid (blood, vaginal fluid, and endometrial cells) flows upwards rather than down and out of the body. In retrograde menstruation, the fluid is released into the pelvic cavity, overwhelming the bodys ability to remove it. This gives the endometrial cells the opportunity to find a new home. And thats the start of endometriosis.

Additionally, endometriosis can happen when endometrial cells are released into the abdomen during a surgery, such as a c-section. There are also theories that involve cells outside of the uterus mimicking endometrial cells when theyre activated by certain hormones, like estrogen.

For women who have severe cases of endometriosis, their main symptom is pain which can express itself in several different ways. Heres what to look for.

Chronic pelvic pain: There may be dull cramping throughout a womans cycle, not only when she is bleeding. Those who suffer from chronic pelvic pain (40% to 50% of those with endometriosis) often report that it gets worse when they have their period.

Constipation: If endometriosis occurs on the bowels or lower intestine, it can lead to constipation.

Heavy menstrual bleeding: Symptoms of so-called menorrhagia can include needing to use double sanitary protection (like a tampon and a pad), bleeding for more than seven days, passing blood clots larger than a quarter, and soaking through at least one pad or tampon every hour for several hours. Drop everything and go to the doctor ASAP if you have menstrual bleeding so bad that youre soaking through one pad or tampon every hour for more than two hours, bleeding between periods, or bleeding post-menopause. These can be symptoms of endometriosis, but also symptoms of other issues, including endometrial cancer.

Infertility: Between 30% and 50% of women who have endometriosis suffer from infertility issues. The causes are still being debated, but it could be that the endometriosis messes with the jobs of the ovaries and fallopian tubes. It could also be due to endocrine (hormone) or ovulatory disorders which interfere with the release and fertilization of healthy eggs. Or the normal shedding of the endometrial layer in the uterus is disrupted if endometriosis is present, and that causes infertility.

Painful sex: Between 40% and 50% of women with endometriosis report having deep dyspareunia, which is the fancy term for painful sex during deep penetration. So how do you know if pain during sex is related to endometriosis? If you have a burning sensation when your partner is first entering you, thats not probably endometriosis. If it is a knife-stabbing feeling when a partner is thrusting deeper, thats a red flag for the condition.

Sharp lower abdominal pain: This can be caused by an ovarian cyst that started as endometriosis. It can also be caused by endometriosis that attaches itself to two different organs, like an ovary and the large bowel, acting like connective tissue that binds these organs to each other. When thats jostled around, say during sex or a bowel movement, it can cause pain.

Painful urination: If endometriosis shows up outside the bladder, it can make urination painful, or blood can show up in the urine.

Severe cramping: Known as dysmenorrhea, this affects 60% to 80% of women with endometriosis. To expel the endometrial lining, the uterus contracts. What triggers those uterine contractions are prostaglandins, which are hormone-like compounds that can cause pain and inflammation. More prostaglandins are linked to more painful menstrual cramps, and endometriosis is linked with a higher level of prostaglandins.

If youre saying to yourself: Wow, it wouldnt dawn on me to go see my gynecologist if Im having poop problemsId see a gastroenterologist! youve now identified one of the challenges with endometriosis. Because of the nature of the disease, its symptoms can cross over into other conditions, making it hard to get to the root of the issue. Without a specific screening test for endometriosis, it may take some trial and error before you receive a correct diagnosis.

Despite these symptoms, 20% to 25% of endometriosis patients are asymptomatic. For them, the discovery often comes when theyre tryingand failingto get pregnant. Still, it is definitely possible to get pregnant if you have endometriosis, and its something you and a reproductive endocrinologist and fertility specialist can discuss.

Asymptomatic patients may also learn about their endometriosis if the tissue mass gets very large and leads to excessive bloating. Other women find out when they have pelvic surgery for something elsesuch as a tubal ligation, or to have an appendix removedand the surgeon sees the endometriosis.

Before we get into the nitty gritty, its worth noting that the prevailing wisdom dictates that doctors begin treating endometriosis before theres a definite diagnosis. Thats because the only way to be sure that its present is to do a laparoscopy, a minimally invasive surgery in which a long thin camera and other tools are inserted into the pelvis through small incisions in the abdomen, and tissue samples are taken and studied by a pathologist. The procedure is expensive and time-consuming, so doctors may sometimes decide to begin treatment if all other indications are for endometriosis.

So what might some of those treatments be?

The first line of defense is NSAIDs, or nonsteroidal anti-inflammatory drugs, which block the bodys production of the hormonal compound prostaglandin, thus cutting down on pain, inflammation, and cramping. NSAIDs are most effective if you start to take them before your period starts. Talk to your doctor about dosage. Dont take more than is listed on the label unless directed by your doc, though he or she may want to bump you up to the prescription type.

Contraceptives that contain hormones, such as the pill, patch, ring, shots, or a hormonal IUD can treat endometriosis by managing a womans cycle or eliminating menses altogether.

A doctor may also opt to put you on a short stint of a nonsteroidal aromatase inhibitor, which is a class of drugs that prevents the cells in the body from making estrogen or by suppressing estrogen production. It essentially creates a menopause-like state. Doctors are wary of using it long-term because, down the road, estrogen suppression can lead to issues like osteoporosis, heart disease, and cognitive decline. But in some cases, turning off the estrogen gives the body time to clean out the endometriosis.

If medical remedies dont work, surgerys an option. Doctors typically do minimally invasive surgery and either cut out or laser off the endometriosis that they see. The good news: It can provide immediate relief of the symptoms. Bad news: For 40% to 80% of women, surgery doesnt provide a total cure, and pain returns within two years of the procedure. This happens because there can be areas of endometriosis so small that the surgeon missed them.

Beyond meds and surgery, researchers are investigating the role genetics play in endometriosis in hopes that it can them predict who will develop it, and aid in the creation of highly effective treatments, too. In the meantime, lifestyle changes may also help control the condition.

For example, we know that endometriosis is an inflammatory disease, and that inflammation can exacerbate painful symptoms. So reducing the amount of inflammatory foods (such as red meat and alcohol) in your diet can help, as can adding in anti-inflammatory foods like salmon, nuts, and olive oil.

Whats more, exercisesomething you may feel challenged to do when dealing with chronic painmay help to ease some symptoms, like cramping and bloating. You dont have to go all-in on marathon running or kickboxing to see a positive effect: Just 30 minutes of moderate exercise daily, like walking or jogging, can help ease your symptoms while improving your overall health and fitness.

Original post:
What are the Signs & Symptoms of Endometriosis? - HealthCentral.com

Snip from the viral video. Photo: Twitter/ Nature Is Lit

We all know about lions and tiger, but are you aware of a species called liger? Ligers are a crossbreed between a lion and a female tiger. Yes, you read that right.

An old video of a liger has been creating quite the sensation on the internet lately. The clip that we are talking about was shared by the Twitter account Nature Is Lit. They posted the video with the simple caption, A Liger which is a cross between a male lion and a female tiger (sic).

The 30-second video shows Kody Antle walking with a huge liger and caressing its back. If you look carefully, you will be able to see that the animal is actually huge and has tiny legs in comparison. This inturn makes it difficult for the feline to walk.

Ligers generally become very large. They outgrow both their parents and are also believed to be the largest cats in the world. The video became a hit as soon as it was shared and was viewed over 105k times.

However, netizens were not impressed with the video. Most of the comments talked about how it wrong to produce these hybrids. Have a look:

Ligers are not the only hybrid offsprings that we know about, there is also an animal called tigon which is a cross between a male tiger and a lioness.

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Excerpt from:
Ever heard of ligers? The cross between lion and female tiger has the Internet worried - India Today

When first described to me, it sounded like a simple task: Figure out how to protect a butterfly that lives only on the Presidential Range.

Simple? Ha!

Nothings simple in wildlife biology, especially when youre dealing with a tiny creature the caterpillars are so small I couldnt find one even when biologists pointed right at it living in a fragile ecosystem that limits research activity, and youre starting from scratch.

And I do mean starting from scratch.

The first year, we didnt know how to tell male from female, said Heidi Holman, a wildlife biologist with New Hampshire Fish and Game who is leading the study of the White Mountain fritillary.

This orange-and-black butterfly, about the size of a half dollar with a wing pattern that Holman said reminders her of 1970s zig-zag pattern, lives only on scattered vegetation patches between Mount Eisenhower and Mount Madison. Microclimates cause snow to linger longer in these spots, supporting a different mix of plants than nearby.

We dont know how many fritillaries there are; we dont know if the population is growing, shrinking or moving; and while we know climate change is altering snow communities we dont know how this will affect the butterflies, or what changes, if any, are happening to its predators or food supply.

We dont know enough to even generate hypotheses. Thats why basic studies like this are crucial, said Steven Fuller, a conservation biologist with the U.S. Fish and Wildlife Service, which is supporting N.H. Fish and Games work.

Endangered species listing

The question is whether the White Mountain fritillary, already a state priority species, should be added to the federal list of endangered species. Efforts to make that decision began in 2017, building on research done several years earlier, and are slated to finish by 2027. That may not be enough time.

Case in point: After three years, biologists still havent been able to determine the host plant for the caterpillars, which is needed to raise a colony in labs for study. (The White Mountain fritillarys lifespan is far more caterpillar than butterfly: two years crawling vs. less than two months flying.)

Tests with plants that caterpillars have been seen on in the wild alpine bilberry, dwarf bilberry, mountain cranberry, bearberry willow and dwarf birch have failed to sustain the population, for reasons that are unclear.

One possibility: Some caterpillars avoid plants that are damaged. It might be a sign of predators or competition, said Holman. Perhaps the problem is that Holmans team is raising caterpillars on plant cuttings rather than potted living plants.

Testing that idea will require creating a miniature study greenhouse that will probably have to go in the Fish and Game lab near Concord Municipal Airport, since the projects laboratory on Mount Washington is a single table in a basement storage room of the Sherman Adams Visitor Center.

Remember, all this is an attempt to find a way to keep a colony going so biologists can do things like analyze its genetics and test various strategies. This isnt even really the first step in the scientific process; more like the preparation to begin the first step.

But nobodys panicking. We look 15 to 20 years out. If it takes 3 or 4 years to learn enough information about a species, thats not a big deal, said Fuller.

Back into the wild

Last Friday, Holman and Fuller released four female White Mountain fritillaries back into the wild, accompanied by a couple of huffing-and-puffing journalists.

Starting at the Adams Building at the top of the Mount Washington Auto Road, Holman put the butterflies into carrying cages and we scrambled down the ankle-twisting Tuckerman Ravine Trail to the lip of the ravine, where they released two of the fritillaries. Then we hiked over to Lakes of the Cloud AMC hut to release another, and then went around the back of Mount Monroe to release the final one.

This scattered dispersal was necessary to return each female to the room-sized patch of vegetation where Holman and her team had collected them a few weeks ago, much to the interest of local hikers.

People notice where you go off-trail with a collecting net, Holman commented. She said its not unusual for a full day of collecting to involve conversation with 100 people.

Going off trail is another reason this study isnt moving faster. The alpine zone the portion of the White Mountains that is above treeline and exposed to the winds and cold of the worlds worst weather is incredibly fragile. So researchers cant run around willy-nilly trying to find and catch butterflies, and they cant put out markers or tape or cages and other materials common to wildlife studies.

The female butterflies had been gathered so their eggs could be collected for the latest effort in creating a viable study population. They have about 200 eggs, Holman said. This past winter, 17% of them survived, which is better than the winter before when none did.

Holman was careful to return the females to the same place they were collected because its possible the butterflies will lay more eggs before they die in the next week or two, and she didnt want to mix up the genetics. This puzzled me until she explained:

Even though the total range of the butterfly is tiny, it might be the case that distinct sub-populations have developed on different mountains because theyre far enough apart. Thats one of the things later studies will determine, meaning the populations must be kept separate until then.

Thats surprising but it get more surprising: Its possible there are different subpopulations separated not by geography but by whether the year ends in an even or an odd number.

Holman explained. Because the caterpillars live for two years before turning into butterflies to mate and lay eggs from a functional standpoint, butterflies are nothing but flying sex organs the species could have developed even-year and odd-year populations.

In other words, caterpillars that turn into butterflies in even-numbered years would mate with each other, while caterpillars that turn into butterflies in odd-numbered years would mate with each other. If this happens consistently for long enough, then even though theyre the same species living side by side on the same plants in the same area, they would never mix their genes and could evolve differently.

Left behind

The White Mountain fritillary is an example of a cold-weather species left behind when the glaciers retreated at the end of the Ice Age some 15,000 years ago, leaving only a few places with the right sort of conditions. The aptly named White Mountain Arctic butterfly is another species in the same boat.

Its no stretch to think that as the climate continues to get hotter and more erratic, species like these that depend on small, easily disturbed environments are in trouble. One of the long-range goals of Fish and Games work, in fact, is to see whether a captive population of the White Mountain fritillary could be establish to augment wild populations in the future, if that proves necessary.

For the time being, however, the goals are more modest.

We want to understand them better, said Holman. Thats what we need to help them.

The rest is here:
What's hard about studying a White Mountain butterfly? Pretty much everything. - Concord Monitor

MORGANTOWN, W.Va. While men are not more likely to contract COVID-19 than women, once infected, they are more likely to suffer from severe complications or die from it.

This is according to Jennifer Franko, a teaching assistant professor in the West Virginia University School of Medicine, who studies sex differences in immune responses. Franko said there are many factors that contribute to this disparity and one of them is simply that in general, men tend to be more susceptible to infection than women.

While this difference may or may not be specific to coronaviruses, similar trends were seen in previous coronavirus outbreaks, including Severe Acute Respiratory Syndrome (SARS) in 2003 and Middle East Respiratory Syndrome (MERS) in 2012, Franko said in a WVU press release. In both of these instances, higher mortality rates were reported in males versus females. Its the same situation that were seeing now with SARS-CoV-2 (COVID-19).

Franko said a less robust immune response in males may result in slower viral clearance and poorer outcomes when dealing with COVID-19. Some of these differences between men and women, she said, could be a result of the hormonal or genetic factor.

As an example, Franko said in the release, in females, estrogen and progesterone are typically thought to stimulate the immune system and may provide a higher level of protection against infection. Whereas, in males, testosterone may suppress such a response.

From a genetics standpoint, many immune-related genes are encoded on the X chromosome. Females have two copies of the X chromosome. Males have only one. In order to balance the dosage of X-linked genes between males and females, one female X chromosome is typically inactivated. Interestingly, we are now beginning to realize that not all of those X-chromosome-linked genes are inactive all the time. In some instances, these genes escape inactivation, resulting in a double dosage effect and higher levels of gene expression in females. If these are immune-related genes, they may correlate with stronger immune responses. This may be an additional reason why females respond to infection with more robust responses.

And Another factor that could account for the disparity, Franko said, is that males may have more underlying conditions that may amplify their risk of severe complications and death. Underlying factors like hypertension or heart disease can lead to worse outcomes when COVID-19 is factored in.

See the original post here:
WVU expert discusses why COVID-19 kills more men than women - WTRF

News that Sen. Kamala Harris was Joe Bidens choice for the 2020 Democratic vice presidential nominee drove speculation and argumentation about her identity. The big question appeared to be, Is Kamala Harris truly African American?

There were numerous articles and opinion pieces about whether Harris can legitimately claim to be African American; the authenticity of her Black identity if she has an Indian mother; what it means for her to be biracial; and other articles opining and speculating about her racial, ethnic and even national identity.

Harris, the daughter of immigrant parents from Jamaica and India, identifies as Black/African American while also embracing her Indian heritage. Yet the questions in social media and news outlets swirling around her identities demonstrate a continued misunderstanding of race and mixed-race people.

While the debates about Harris racial identities may seem new given the recent media attention focused on her, they are similar to the commentary other high-profile mixed-race people have received.

When I did research for my chapter on Tiger Woods in my book Racial Ambiguity in Asian American Culture, I found much criticism of Woods calling himself Cablinasian (a word Woods made up as a teen to account for his Caucasian, Black, American Indian and Asian heritages) and for not solely identifying as Black. Several articles expressed confusion about his multiraciality the uncertainty over the most accurate racial category to fit him into.

The discussions of Woods mirror the critiques of Harris.

The competing interpretations of Harris identity, like with Woods, seem to be a function of her multiple, intersecting identities (including race, class and gender) as well as the publics deep discomfort with people who dont fit into fixed boxes.

For example, some people want to disavow Harris Blackness because of her multiple ethnic and racial affiliations. Others claim her as Jamaican or Indian, which serves as evidence of her success as a member of an ethnic group or which celebrates a shared cultural connection with her.

Some see her Jamaican and Indian ethnicities as diminishing her claim to a Black American experience, unlike those who are known as ADOS, or American Descendants of Slavery. Because Harris ancestors do not include those who were enslaved in the U.S., ADOSs concern is that neither she nor her family can know the deep historical pain of U.S. anti-Black racism.

Embedded in this concern are echoes of the questions Black Americans face who have passed, who chose whiteness to escape slavery or the Jim Crow South or those who choose multiraciality to flee the social stigma of Blackness. Questioning Harris bona fides to being a Black American is questioning where her loyalties lie.

There are political reasons why some may want to discredit Harris claims to Blackness, believing that saying shes not truly Black means she shouldnt be relatable to Black voters.

But the desire to see Harris as only Black or worry that she is not truly African American derives from the racist U.S. past of the one-drop rule of racial impurity, which sociologist F. James Wood has described as the idea that a single drop of black blood makes a person a black. That was an ideology from the majority of U.S. history from its founding through to the Jim Crow era when race was firmly believed to be a matter of blood.

Scientists for well over half a century have disproven any link between race and genetics. Scholars have been writing and researching, for decades, about how race is a social construction rather than a biological absolute.

But in public discussion in the U.S., race is treated as an entity that can be measured and labeled. That is why people are questioning the validity of Harris African American identity. They believe that her racial affiliation can somehow be quantified and weighed on a scale of authenticity.

Underlying these questions of authenticity are questions of legitimacy. Multiracial people are constantly confronted by those who question their whole selves and their choice to authentically identify with multiple races. For these critics, to qualify for membership in a race or ethnicity means one must be 100% of that group. Anything less means you cannot be a real member of any given culture, ethnicity or race.

Yet the reality and experiences of multiracial peoples lives, like that of Harris, suggest that basic math cannot capture the realities of what it means to embody multiple races and ethnicities. As one subject of multiracial artist Kip Fulbecks photo installation of mixed-race Asian Americans in The Hapa Project states, I am 100% Black and 100% Japanese.

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Racial identity is not only about external features (eye shape, hair texture, skin color) and ancestral lines. It is about the cultural and social habits and rituals that people participate in as they claim their affiliations with ethnic and racial groups.

The Indian food that Harris consumes speaks volumes about the ethnic influences she embraces, as does the Black sorority she pledged and the historically Black college she attended.

Anyone confused about Kamala Harris multiraciality may recall that the U.S. is a nation that was not built by a single ethnic or racial group.

Indeed, U.S. land was taken from various Indigenous nations and built by the enslaved labor of people from multiple African nations and tribes for the benefit of others who hailed from a variety of European nations. And other immigrants from Latin America and the Pacific Rim settled in North America and made the U.S. their home.

Harris, as the U.S.s first multiracial, multiethnic female vice presidential candidate, reflects the evolution of racial categories, which coincides with an ever-evolving understanding of race and racism in the 21st century.

Continued here:
With Kamala Harris, Americans yet again have trouble understanding what multiracial means - The Conversation US

Abstract

Pediatric care providers, pediatricians, pediatric subspecialty physicians, and other health care providers should be able to recognize children with abnormal head shapes that occur as a result of both synostotic and deformational processes. The purpose of this clinical report is to review the characteristic head shape changes, as well as secondary craniofacial characteristics, that occur in the setting of the various primary craniosynostoses and deformations. As an introduction, the physiology and genetics of skull growth as well as the pathophysiology underlying craniosynostosis are reviewed. This is followed by a description of each type of primary craniosynostosis (metopic, unicoronal, bicoronal, sagittal, lambdoid, and frontosphenoidal) and their resultant head shape changes, with an emphasis on differentiating conditions that require surgical correction from those (bathrocephaly, deformational plagiocephaly/brachycephaly, and neonatal intensive care unit-associated skill deformation, known as NICUcephaly) that do not. The report ends with a brief discussion of microcephaly as it relates to craniosynostosis as well as fontanelle closure. The intent is to improve pediatric care providers recognition and timely referral for craniosynostosis and their differentiation of synostotic from deformational and other nonoperative head shape changes.

Pediatric health care providers evaluate and care for children with a variety of head shapes, some of which represent craniosynostosis and other craniofacial disorders, some of which are deformational in nature, and some of which are simply normal variants. Identifying the various types of head shape abnormalities is important for aesthetics, to identify candidates for future monitoring, and, at least in some, to prevent increases in intracranial pressure (ICP) and allow proper brain development. This report reviews several of the important head shape abnormalities and normal variants that pediatric health care providers are likely to see, describes their salient clinical and radiologic features, and discusses the optimal timing for referral and surgical correction. The report begins with an overview of the normal development of the skull and sutures and the pathophysiology of craniosynostosis.

The skull is a complex skeletal system that meets the dual needs of protecting the brain and other sensory organs while allowing its ongoing growth during development. The calvarial vault (Fig 1) is composed of paired frontal, parietal, and temporal bones and a single occipital bone. The paired frontal bones are separated from each other by the midline metopic suture, and the paired parietal bones are separated from each other by the midline sagittal suture. The frontal and parietal bones are separated by the paired coronal sutures, the parietal and temporal bones are separated by the paired squamosal sutures, and the parietal and occipital bones are separated by the paired lambdoid sutures. There are also a number of sutures and synchondroses involving the skull base. The anterior fontanelle (bregma) forms at the junction of the paired frontal and parietal bones, whereas the posterior fontanelle () forms at the junction of the paired parietal bones with the midline occipital bone.

Three-dimensional CT scan showing (A) top and (B) side views of the skull bones with metopic (m), sagittal (s), coronal (c), lambdoid (l), and squamosal (sq) sutures, as well as the anterior fontanelle (af). Reproduced with permission from Governale LS. Craniosynostosis. Pediatr Neurol. 2015;53(5):394-401.

The skull encompasses the skull base, calvarial vault, and pharyngeal skeleton.1,2 The bones of the skull base mineralize through endochondral ossification involving the replacement of a fully formed cartilaginous anlagen with bone matrix. In contrast, the bones of the calvarial vault form by intramembranous ossification involving the mineralization of bone matrix from osteoblasts without a cartilaginous intermediate. Craniosynostosis involves the abnormal mineralization of suture(s) and fusion of one or multiple contiguous bones of the cranial vault and can include additional abnormalities of both the soft and hard tissues of the head.3 The role of cartilage growth disturbance within the cranial base in craniosynostosis is still a matter of debate.47

The bones of the cranial vault ossify directly from undifferentiated mesenchyme.8,9 Differentiating osteoblasts accumulate on the leading edges of cranial vault bones as the brain expands during prenatal and early postnatal growth. Undifferentiated cells between these osteogenic bone fronts form the cranial vault sutures, which function to keep the suture patent while allowing rapid and continual bone formation at the edges of the bone front until brain growth is complete.10 Sutures are fibrous joints that allow temporary deformation of the skull during parturition or trauma, inhibit bone separation for the protection of underlying soft tissues, and, perhaps most importantly, enable growth along the edges of the 2 opposing bones until they ossify and fuse later in life.10,11 Sutures normally remain unossified well into adolescence. When sutures mineralize (close) abnormally, growth is prevented at the fused suture and is instead redirected to other patent sutures, which, in turn, alters the shape of the skull in predictable ways.

Research has revealed multiple genetic factors, involving several major cellular signaling pathways such as wingless and Int-1 (WNT), bone morphogenetic protein (BMP), fibroblast growth factor (FGR), and others, that interact to direct the behavior of particular subpopulations of cells within the suture. In craniosynostosis, these cells receive and emit signals that stimulate osteogenic differentiation far earlier than expected,12 resulting in mineralization and progressive ossification that unites the bones on either side of the suture. Pathogenic variants of fibroblast growth factor receptors (FGFRs) are the most common genetic variants associated with craniosynostosis.1315 FGFRs are transcription factors that initiate and regulate the transcription of multiple genes throughout prenatal development.1621 Various mouse models expressing FGFR pathogenic variants have been developed and demonstrate phenotypes analogous to the human craniosynostosis syndromes, including premature coronal suture closure and midface flattening (retrusion).2231 Pathogenic variants in TWIST1 (twist family basic Helix-Loop-Helix transcription factor 1) gene, another transcription factor associated with craniosynostosis,3234 directly affect BMP signaling of skull preosteoblasts, leading to variations in cerebral brain angiogenesis.35 These animal models as well as studies of cellular behavior in human craniosynostosis cell lines provide the means to examine the structural, cellular, and molecular changes that occur during prenatal development.36,37

Aesthetic consequences aside, there are concerns that craniosynostosis, in some cases, affects brain growth and intellectual development. A recent systematic review strongly suggests that craniosynostosis is associated with a higher risk for presurgical neurocognitive deficits compared with the population unaffected by craniosynostosis; these deficits persist postoperatively, suggesting that they may occur independent of surgical correction.38 Generalized IQ is shifted downward with increased learning disabilities, language delays, and behavioral difficulties.39 At least 4 mechanisms have been proposed: (1) globally elevated ICP, (2) global brain hypoperfusion, (3) localized compression and deformity, and (4) genetic predisposition. It has proven difficult to extract the exact contributions of each factor, and studies have provided conflicting data. Moreover, many studies suffer from a variety of methodologic flaws, including the inclusion of several types of craniosynostosis, varying definitions of ICP elevations (and lack of normative data), the use of different neurocognitive testing strategies, lack of randomization, inconsistent operative approaches, variations in operative timing, and small study cohorts, to name a few.

To what extent, if any, treatable causes contribute to neurocognitive deficits in craniosynostosis, and whether prompt surgical treatment can improve neurobehavioral outcomes, is a matter of debate. Elevated ICP is present in 4% to 42% of children with single-suture craniosynostosis and approximately 50% to 68% with multisutural involvement4044; the incidence of intracranial hypertension is higher among older untreated individuals.42,44 Elevated ICP correlates with developmental and cognitive outcomes in some studies40 but not others.39,45,46 Neither has the severity of the deformity correlated with the presence of neurocognitive deficits.39 A few studies have suggested that earlier treatment of craniosynostosis may result in better early and late neurocognitive outcomes,45,47 but the majority have not found such an association.12,4850 Finally, genes involved in craniosynostosis syndromes have recently been found to be involved in brain development,51 and syndromic craniosynostosis syndromes having virtually identical patterns of skull fusion may carry widely different risks for neurodevelopmental deficits (see below).

Single sutural synostosis results in predictable changes in skull shape (Fig 2, Table 1). Persing et al52 proposed 4 rules that govern calvarial growth and predict the head shape in cases of craniosynostosis. These rules are based on the principle that calvarial growth occurs by osseous deposition from calvarial bones lying adjacent to each suture, and this deposition is oriented perpendicular to the intervening suture:

Bones that are fused as a result of craniosynostosis act as a combined growth plate, having reduced growth potential at all of the margins of the plate;

Bone is, therefore, deposited asymmetrically, with greater osseous deposition in the bones opposite the perimeter sutures of the combined growth plate;

Non-perimeter sutures that are in-line with the combined bone plate deposit bone symmetrically at their suture edges; and

Both perimeter and in-line (abutting) sutures nearest the combined bone plate compensate with greater osseous deposition than more distant sutures.

Drawing showing the various head shape changes that occur with single-suture synostosis and deformational posterior plagiocephaly. Reproduced with permission from the cover of the May 2016 issue of the Journal of Neurosurgery: Pediatrics. 2016 American Association of Neurologic Surgeons. Artist: Stacey Krumholtz.

Head Shapes Resulting From Craniosynostosis and Positional Deformations

To use sagittal synostosis as an example, the fused parietal bones act as a single, combined growth plate with reduced growth perpendicular to the sagittal suture; accelerated bone deposition occurs within the frontal and occipital bones. The metopic suture, as an abutting in-line suture, deposits bone symmetrically at an accelerated rate. The result is an elongated head (scaphocephaly) with parietal narrowing as well as frontal and occipital bossing. A similar analysis predicts the head shape for the other sutural synostoses (Fig 2). Multisutural synostosis can be appreciated as the combined effect of fusion involving each of the individual component sutures.

Sagittal synostosis is the most common form of craniosynostosis, accounting for approximately 40% to 45% of cases5355 and having a prevalence of 2 to 3.2 per 10000 live births.53,56,57 Sagittal synostosis has a distinct male predominance of 2.5 to 3.8:1.53,55 Sagittal synostosis produces scaphocephaly, characterized by both an elongated head and biparietal narrowing that is evident at birth. The head elongation is best appreciated by looking at the infant from the side (Fig 3). Some patients have an associated saddle deformity at the vertex, giving an overall peanut shape to the head. The second consistent abnormality is the biparietal narrowing when looked at from the front or from above. Normally, the parietal bones project straight up or even bowed outward from the temporal region. Biparietal narrowing in sagittal synostosis produces a cone-head or bullet-shaped head when viewed from the front and a bicycle racing helmet shape when viewed from above (Fig 3). Frontal or occipital bossing is a variable feature and tends to worsen as the infant ages. Physical examination also demonstrates a prominent midline interparietal, or sagittal, ridge that extends between the anterior and posterior fontanelles; the sagittal suture is longer, as measured from the anterior to the posterior fontanelles. Partial synostosis may cause an incomplete ridge involving only a portion of the suture. One may demonstrate the fusion of the 2 parietal bones by placing a thumb on each of them near the midline and alternatingly depressing each of them; there should be no independent movement.

Scaphocephaly attributable to sagittal synostosis. A, Lateral view shows elongated antero-posterior dimension with modest frontal bossing and saddle deformity at vertex. B, Frontal view in same child shows parietal bones that curve inward giving a conical head shape attributable to parietal narrowing.

Sagittal synostosis produces an elongated head on lateral radiographs and a bullet-shaped head on anterior-posterior (AP) radiographs (Fig 4A and B). The normal sagittal suture tapers toward the midline on AP radiographs; in sagittal synostosis, the fused sagittal suture may not be visible, but, more commonly, it appears to have an abrupt, more squared-off appearance (Fig 4B), paradoxically appearing to be open when, in fact, it is not. Computed tomography (CT) scans demonstrate the elongated head with biparietal narrowing (Fig 4C); the fused sagittal suture is best appreciated on coronal reconstructions by using bone algorithms (Fig 4D); three-dimensional reconstructions are particularly well suited to demonstrate the midline sagittal ridge (Fig 4E) but may involve more radiation exposure, particularly with thin slices.

Radiologic features of sagittal synostosis. A, Lateral skull radiograph demonstrates an elongated head (sagittal suture is difficult to see from this perspective). B, Anteroposterior skull radiograph shows conical head shape. Note that part of the sagittal suture appears fused (arrowhead), whereas some appears open with sharp borders and adjacent hyperdensities (arrows). The entire suture was fused at surgery. C, Axial CT scan shows elongated head shape with prominent frontal bossing and fused posterior sagittal suture (arrowhead). D, Coronal CT scan shows conical shape of head with fusion of the sagittal suture (arrowheads). E, Three-dimensional CT scan shows prominent midline ridged sagittal suture (arrowheads); both coronal and lambdoid sutures are patent.

It is important to distinguish scaphocephaly from dolichocephaly. Although these 2 terms have been used interchangeably by many, dolichocephaly refers to an elongated head without associated biparietal narrowing and is caused by positioning. Dolichocephaly most commonly occurs in preterm infants in the NICU: so-called NICUcephaly. Of course, there is no midline sagittal ridge as there is in sagittal synostosis, and, with the thumb maneuver described above, the parietal bones will move independently, often making the infant cry because this appears to be painful.

Infants with frontal bossing from hydrocephalus or chronic subdural hematomas or hygromas may generate confusion. However, these infants have neither an elongated head nor biparietal narrowing, and they have no midline sagittal ridge. Metopic synostosis is readily differentiated from sagittal synostosis by the presence of a prominent midline ridge that extends from the nasion to the anterior fontanelle, anterior to the sagittal suture, and is often associated with a triangular or keel-shaped forehead (trigonocephaly) with recession of the lateral orbits and narrow set eyes. Bathrocephaly is another condition that can produce confusion. Bathrocephaly results in a prominent occiput that angles sharply inward toward the neck but without frontal bossing, biparietal narrowing, or sagittal ridging (Fig 5). Bathrocephaly is associated with a persistent mendosal suture, an embryonic suture that extends transversely between the 2 lambdoid sutures and, normally, is gone by birth Fig 5C.58 Bathrocephaly does not require treatment.

Bathrocephaly attributable to persistent mendosal suture. A, Infant with focal prominent occiput (arrowheads). Note the lack of frontal bossing. B, Lateral skull radiograph shows prominent occiput (black arrowhead) and steep angle of the posterior skull (white arrowhead). C, CT scan shows persistent mendosal suture (arrowheads).

Infants who have sagittal synostosis should be referred to a specialist for repair as early as possible because surgical correction is usually performed much earlier (often at 612 weeks of age) than for other forms of synostosis. Surgical management options include both open and endoscopic repairs; adjunctive postoperative helmet therapy is recommended for up to 1 year postoperatively, after more limited endoscopic repairs.59,60 The importance of early recognition and referral for surgical management cannot be overemphasized because infants treated after 6 to 10 months of age increasingly require more extensive and morbid complete calvarial vault remodeling to achieve adequate correction.

Metopic synostosis is presently the second most common form of craniosynostosis, accounting for 19% to 28% of cases5355 and having a prevalence of 0.9 to 2.3 per 10000 live births.53,57 The prevalence of metopic synostosis may have increased over the past decades (without a corresponding increase in other synostoses) for uncertain reasons.54 Metopic synostosis also has a distinct male preponderance of 1.8 to 2.8:1.53,55 Metopic synostosis produces trigonocephaly with reduced growth potential perpendicular to the metopic suture, a pronounced metopic ridge, and hypotelorism; the forehead forms a keel, similar to the prow of a boat, with bilateral orbital retrusion and bitemporal narrowing (Fig 5). Reduced bifrontal and accelerated biparietal growth along the coronal sutures, with additional symmetrical growth along the in-line sagittal suture, results in a widened, pear-shaped calvarium behind the coronal suture (Fig 6B).

Trigonocephaly attributable to metopic synostosis. A, Frontal view of infant showing pronounced midline metopic ridge and bilateral temporal narrowing. B, Vertex view in the same infant shows triangular-shaped forehead.

Some infants may display only a palpable (and sometimes visible) metopic ridge with little or no trigonocephaly; whether this represents a forme fruste of metopic synostosis or another distinct process is unknown. Infants with an isolated metopic ridge and minimal or no trigonocephaly do not require surgical correction.

Plain radiographs may display prominent bony fusion of the metopic suture; however, care must be taken because the metopic suture may normally begin closing as early as 3 months of age and all are closed by 9 months of age.61 CT scans readily demonstrate the triangular-shaped anterior fossa with midline thickening of the metopic suture and hypotelorism (Fig 7).

Radiologic features of trigonocephaly. A, Axial CT shows triangular-shaped forehead with fused metopic suture (arrowhead) and bitemporal narrowing. B, Three-dimensional CT scan vertex reconstructions show prominent midline metopic ridge with triangular-shaped forehead, bilateral orbital retrusion, and hypotelorism.

Unicoronal synostosis is the third most common form of craniosynostosis, accounting for 12% to 24%53,55 of nonsyndromic cases and with a prevalence of 0.7 per 10000 live births.57 Unlike other forms of synostosis that have a male predominance, unicoronal synostosis has a female preponderance of 1.6 to 3.6:1.53,57 Unicoronal synostosis produces anterior plagiocephaly in which growth along the ipsilateral coronal suture is reduced and results in a flattening of the ipsilateral forehead (Fig 8). Accelerated growth of the contralateral frontal bone along the perimeter (metopic) and in-line (contralateral frontal) sutures results in compensatory bossing of the contralateral forehead. Some parents and providers may focus on the contralateral compensatory bossing rather than the ipsilateral flattening on the involved side. The metopic suture is bowed toward the side of the flattening. Accelerated growth along the squamosal suture (another perimeter suture) also produces a degree of ipsilateral temporal bossing as well as posterior and inferior ear displacement. The net effect of these changes is a trapezoidal head shape with flattening of the ipsilateral calvarium (both frontally and occipitally) compared to the contralateral side (Fig 8A). This presentation stands in distinct contrast to the parallelogram head shape that accompanies most cases of occipital deformational plagiocephaly (DP) (see below).

Anterior plagiocephaly attributable to unilateral coronal synostosis. A, Vertex view in a child with left coronal synostosis shows flattening of the left forehead and compensatory prominence of the right forehead, upward displacement of the left eyebrow, deviation of the nasal root toward the right and nasal tip toward the left, and trapezoidal head shape. B, Frontal view in another infant with right coronal synostosis shows elevation of the right eyebrow and misshapen orbit, deviation of the nasal root toward the right and nasal tip toward the left, and significant facial scoliosis.

Coronal synostosis additionally involves the sphenozygomatic, frontosphenoidal, and sphenoethmoidal sutures along the frontal skull base, which produces additional secondary morphologic changes involving the orbits and face. Elevation of the lateral sphenoid wing with foreshortening of the zygoma and orbit results in a characteristic elevation of the ipsilateral eyebrow, a seemingly larger palpebral fissure, and/or mild proptosis (Fig 8). The contralateral orbit may be comparatively smaller and is displaced inferiorly and laterally, sometimes leading to a vertical orbital malalignment (dystopia). Diminished growth along the ipsilateral anterior skull base deviates the nasal root toward the involved side and the nasal tip toward the contralateral side (Fig 8B), and the ipsilateral tragus is often displaced anteriorly and inferiorly. In some cases, the entire face appears to be curved with its convexity toward the involved side, leading to a facial scoliosis (Fig 8B).

Plain radiographs demonstrate poor visualization of the involved coronal suture. If visible, the ipsilateral suture is deviated anteriorly compared to the contralateral suture; one caveat is that the radiograph must be truly lateral by demonstrating that the ears and/or external ear canals are properly aligned. On the AP view, a characteristic Harlequin (or Mephistophelean) orbit is visible on the involved side and is attributable to elevation of the lesser sphenoid wing (Fig 9A). The nasal bone is also askew, with its upper part deviated toward the involved side.

Radiologic features of unilateral coronal synostosis. A, A-P radiograph shows elevated ipsilateral sphenoid wing giving rise to the Harlequin eye deformity (arrowheads). The nasal bone is deviated superiorly toward the fused suture. B, Axial CT scan shows trapezoidal head shape with retrusion of the right forehead (white arrowhead), prominence of the left forehead (black arrowhead), and elevation of the sphenoid wing (white arrow).

The findings of unicoronal synostosis are also readily apparent on CT scans. The involved coronal suture is not visible over most or all of its length, whereas the contralateral side is readily apparent on axial images. The ipsilateral flattening and contralateral bossing are also readily evident on axial images. Finally, the sphenoid wing elevation produces a distinct asymmetry to the skull base, with the ipsilateral orbital roof being visible on more superior axial images (and elevated on coronal images) compared to the contralateral orbital roof (Fig 9B). Coronal images also demonstrate the Harlequin orbit to good advantage. Three-dimensional CT reconstructions also demonstrate all of the findings.

The differential diagnosis would include occipital DP and frontosphenoidal synostosis, both discussed below. Hemifacial microsomia is another consideration, although the latter is manifest by primary underdevelopment of the midface and mandible, with relative sparing of the forehead and orbits; the ear is also malformed, and there are often preauricular skin tags.

Bicoronal synostosis accounts for about 3% of nonsyndromic and most syndromic synostoses,53 with a prevalence of approximately 0.5 per 10000 live births.57 In bicoronal synostosis, the coronal sutures are palpable on both sides, the entire forehead is flattened, the head is reduced in the anteroposterior dimension (anterior brachycephaly), and the forehead often has a towered appearance (turricephaly). The combination of frontal and maxillary foreshortening results in shallow orbits and produces significant exophthalmos; in addition, the orbits are recessed (retruded) or shallow bilaterally (Fig 10). The nasal bone is short and upturned in many cases.

Brachycephaly attributable to bicoronal synostosis in a child with Saethre-Chotzen syndrome. A, Frontal view shows flattened forehead, shallow orbits with bilateral orbital retrusion, a modestly upturned (beaked) nose, bilateral ptosis, and midface hypoplasia. B, Lateral view of the same infant shows flattened and tall (turricephaly) forehead, with shallow orbits and midface hypoplasia.

On radiographs, the anterior fossa and orbits are short and both coronal sutures are radio dense or difficult to see and anteriorly deviated. Bilateral Harlequin orbit deformities are present with elevation of both sphenoid wings. Because both frontal bones are involved, the nasal bone remains midline. CT scans demonstrate brachycephaly, thickening and/or nonvisualization of both coronal sutures, a shallow anterior fossa and orbits, and bilateral sphenoid wing elevation (Fig 11). Coronal images nicely demonstrate bilateral Harlequin orbits as well.

Radiologic features of bilateral coronal synostosis. A, Axial CT scan shows shallow anterior fossa and absence of both coronal sutures (arrowheads). B, Three-dimensional CT scan reconstructed vertex view shows shallow anterior fossa, bilateral superior orbital retrusion, and bilaterally fused coronal sutures (arrowheads).

Lambdoid synostosis is rare; in contemporary series, lambdoid synostosis accounts for only 2% of cases and has a prevalence of 0.1 per 10000 live births.55,57 Older studies likely included children with DP and their prevalence rates are, therefore, higher. In one small series, male and female patients were equally represented.55 True lambdoid synostosis is usually readily differentiated from occipital DP (see below), with which it is most commonly confused. True lambdoid synostosis is most commonly characterized by a flattening of both the ipsilateral occiput and forehead, leading to a trapezoidal or rhomboidal head shape (Fig 12). The contralateral occiput may be prominent by comparison. The lambdoid suture is prominently ridged. The ipsilateral ear is deviated posteriorly (in contrast to DP, in which it is deviated anteriorly), and the mastoid process and associated retromastoid occipital bone are unusually prominent, producing a retroauricular bulge (Fig 12). Bilateral involvement produces a flattened occiput with ridging of both lambdoid sutures and retromastoid bulge on both sides. The posterior sagittal suture may also be involved, producing an element of scaphocephaly as well as ridging of both lambdoid and posterior sagittal sutures (the Mercedes-Benz sign).

Unilateral lambdoid synostosis. A, Anterior view shows asymmetric head with calvarium deviated toward the left. Note the symmetry of orbits. B, Posterior view shows prominent curvature of the occiput toward the left with a retromastoid bulge on the right (arrow) and flattening inferior to the bulge. C, Axial CT scan shows prominent left mastoid bulge and indentation of the occipital skull (arrowhead). D, Three-dimensional CT scan posterior view shows the fused left lambdoid suture, retromastoid bulge (white arrowheads), and indentation of the occipital bone (black arrowhead).

Plain radiographs commonly demonstrate significant prominence and hyperostosis or nonvisualization of the involved lambdoid suture(s). CT scans also demonstrate hyperostosis or nonvisualization of the involved lambdoid suture(s). The retromastoid bulge and posterior displacement of the petrous ridge are prominent; the posterior midline and the foramen magnum at the base of the skull are also drawn toward the ipsilateral side (Fig 12C). Three-dimensional CT scans also demonstrate these findings to good advantage (Fig 12D). Treatment involves open posterior cranial vault reconstruction between 5 and 9 months of age or endoscopic repair as early as 2 to 3 months of age, followed by molding helmet treatment for up to 1 year.

An extremely rare form of synostosis involves the frontosphenoidal suture, located at the anterior skull base and contiguous with the coronal suture and orbital roof.62,63 Synostosis involving the frontosphenoidal suture produces plagiocephaly with ipsilateral forehead flattening that resembles unilateral coronal synostosis but differs from the latter in that the ipsilateral orbit is deviated inferiorly rather than superiorly, and the nasal root is deviated away from rather than toward the side of the synostosis (Fig 13 A and B). The coronal suture is visible on neuroimaging studies, and there is no Harlequin eye orbital deformity (Fig 13 C and D); CT demonstrates the fusion of the frontosphenoidal suture (Fig 13E). Treatment involves a fronto-orbital reconstruction.62,63

Frontosphenoidal synostosis. A, Frontal view of infant with left frontosphenoidal synostosis, with left forehead depression and retrusion and depression of left orbit. B, Vertex view demonstrating left forehead and orbital retrusion. Note in both images the deviation of the nasal root away from, and the nasal tip toward, the involved side, in contrast to coronal synostosis. C, Frontal three-dimensional reconstruction CT scan shows inferiorly displaced ipsilateral eyebrow and orbital roof (arrowheads) and deviation of the nasal root (arrow) toward the contralateral side (in contrast to unicoronal synostosis, see Fig 8). D, Vertex three-dimensional reconstruction CT scan shows left forehead flattening but open coronal suture on that side (arrowheads). E, Three-dimensional reconstruction CT scan with a view of the inside of the skull base with the calvarium digitally subtracted shows flattening of the left orbit. The right frontosphenoidal suture is patent (arrowhead), whereas the left is fused.

A number of craniosynostosis syndromes have been described phenotypically (Table 2). All of these, most commonly, include elements of bicoronal synostosis and midface hypoplasia. Ophthalmologic manifestations are also common and include shallow orbits, some degree of exorbitism, and extraocular muscle dysfunction with strabismus and resultant amblyopia and poor visual acuity.64,65 More recent genetic testing has revealed significant genotypic overlap, with the same genetic mutation capable of producing distinctly different phenotypes, and a single phenotype resulting from different genetic pathogenic variants. It is beyond the scope of this report to describe all of the various syndromes in detail; brief descriptions of the more common syndromes are provided. The interested reader is referred elsewhere for more detailed information.66,67

Genetics of Craniofacial Syndromes

Crouzon syndrome is most frequently characterized by bicoronal synostosis leading to a shallow anterior fossa, a high and flat forehead (turricephaly) with reduced anteroposterior cranial measurement (brachycephaly), shallow orbits and prominent globes (exorbitism), midface hypoplasia leading to an underbite and malocclusion, and upturned (or beaked) nose. Involvement of other sutures may also occur, and progressive sutural fusion has been described during the first 2 years of life.68 Craniosynostosis is a variable feature and, rarely, may be absent. Syndactyly is notably absent. Rarely, vertebral fusion, ankylosis (particularly the elbows), and acanthosis nigricans may be present. Cognitive development is often normal, and neurocognitive deficits are uncommon. Crouzon syndrome is transmitted as an autosomal-dominant condition with varying penetrance; pathogenic variants in the FGFR1 or FGFR2 genes are responsible for all but Crouzon with acanthosis nigricans, which is caused by pathogenic variants in the FGFR3 gene.

The craniosynostosis pattern in Apert syndrome is similar to that in Crouzon syndrome, although progressive fusion of additional sutures during the first 2 years occurs more commonly in Apert syndrome. Like in Crouzon syndrome, turricephaly, brachycephaly, exorbitism, beaked nose, and malocclusion are cardinal clinical manifestations in Apert syndrome. Down-slanting palpebral fissures are typical. Palatal abnormalities may be present and include narrowing, bifid uvula, and cleft palate,69 and vertebral fusion abnormalities (most commonly involving C5-C6) may be present.70 Structural brain abnormalities may be present, including agenesis of the corpus callosum, gyral malformations, absent or defective septum pellucidum, megalencephaly, and static or progressive ventriculomegaly. Unlike Crouzon syndrome, neurocognitive deficits are more common, with more than one-half having subnormal IQ scores. The most striking extracranial abnormality in Apert syndrome is osseous and/or soft tissue syndactyly involving fingers and/or toes, particularly the second, third, and fourth digits (Fig 14). The digits are short, and broad distal phalanges may also be present. Apert syndrome is transmitted as an autosomal-dominant condition; a mutation in the FGFR2 gene is responsible.

Syndactyly involving the toes in an infant with Apert syndrome.

Pfeiffer syndrome is characterized by bicoronal synostosis, and the midface is narrow but not generally retruded; there is, therefore, less significant exorbitism and malocclusion. Like Crouzon and Apert syndromes, cranial sutures in Pfeiffer syndrome may progressively fuse over time. The nose is generally small with a low nasal bridge. Partial syndactyly of the second and third fingers and/or toes are cardinal features of Pfeiffer syndrome, and the distal phalanges of the thumb and great toe are often wide. Pfeiffer syndrome is transmitted as an autosomal-dominant condition with variable penetrance; a mutation in the FGFR2 gene is responsible.

Cohen has described 3 types of Pfeiffer syndrome.71 Type I is characterized by typical coronal synostosis, midface hypoplasia, and digital malformations with normal neurocognitive development. Types II and III are associated with much more severe involvement, usually involving all of the sutures (and, in type II, producing a cloverleaf skull), with shallow orbits and severe exorbitism sufficient to produce corneal exposure, airway obstruction, partial syndactyly and elbow ankylosis, various visceral abnormalities, and moderate to severe neurocognitive impairment.

Saethre-Chotzen syndrome is characterized by bicoronal synostosis (with occasional involvement of other sutures) leading to turricephaly and brachycephaly with biparietal foramina but less severe midface hypoplasia and modest exorbitism. Differentiating manifestations include ptosis of the eyelids (Fig 10A), a low anterior hairline, and a prominent nose. Lacrimal duct abnormalities and a characteristic prominent ear crus may be present. Extracranial abnormalities can include partial soft tissue syndactyly, most commonly involving the second and third fingers and third and fourth toes; the digits are often short and the great toes may be broad. Saethre-Chotzen syndrome is transmitted as an autosomal-dominant condition; a mutation in the TWIST gene is responsible.

Carpenter syndrome is characterized by synostosis most commonly involving both coronal sutures and variably others as well, with shallow supraorbital ridges and flat nasal bridge, midface, and/or mandibular hypoplasia, low-set and malformed ears and a high arched palate. A number of digital malformations may occur including brachydactyly, clinodactyly, and camptodactyly (medial deviation and flexion deformity of the distal phalanges, respectively) and polydactyly involving the toes. Cardiac malformations occur in one-half of affected individuals and include septal defects, tetralogy of Fallot, transposition of the great vessels, and persistent ductus arteriosus. Carpenter syndrome is transmitted as an autosomal-recessive condition; pathogenic variants in the RAB23 or MEGF8 genes are responsible.

Antley-Bixler syndrome is characterized by bicoronal synostosis (in 70%) with turricephaly but with frontal bossing, midface hypoplasia with exorbitism, and a flat and depressed nasal bridge. Low-set and dysplastic ears are a consistent feature, and choanal atresia or stenosis is present in 80%. Limited limb mobility and a diminished range of motion involving virtually all joints, phalangeal abnormalities (including long fingers with tapering fingernails), radiohumeral synostosis, and femoral bowing are common features as well. Impaired steroidogenesis and genital abnormalities are associated features. Antley-Bixler syndrome is most commonly related to pathogenic variants in the POR gene (with impaired steroidogenesis) and autosomal-recessive transmission and pathogenic variants of the FGFR2 gene (without impaired steroidogenesis), with autosomal-dominant transmission.

Muenke syndrome is characterized by fusion of one or both coronal sutures with a broad and shallow supraorbital ridge and prominent forehead (bossing). Hypertelorism and flattened maxillae are variable features. Hearing loss is present in approximately one-third of patients, and macrocephaly is present in approximately 5%.72 Muenke syndrome is transmitted as an autosomal-dominant condition and is unusual among the syndromic synostoses in that it involves a mutation in the FGFR3 gene.

The evaluation and management of craniosynostosis are beyond the scope of this review, but a few general comments are helpful. Imaging of suspected craniosynostosis most commonly includes either plain skull radiographs or CT scans. In general, plain skull radiographs are of limited value if craniosynostosis is strongly suspected because CT scans will likely be performed by the craniofacial team as part of surgical planning. On the other hand, obtaining a CT scan in children with low suspicion for craniosynostosis is often unnecessary. Cranial ultrasonography is used by some, and studies suggest that it is as effective as plain radiographs or CT scans in identifying a fused suture.73 However, not all radiologists are equally experienced at identifying fused sutures on ultrasonography, so it is recommended that the provider check with the radiologist first before obtaining this study. Many craniofacial teams prefer that providers refer these children early and postpone imaging until after the child is seen by specialists. For children with occipital DP, the diagnosis is usually obvious by clinical inspection, the absence of significant deformity at birth, and the absence of a retroauricular bulge; questionable cases might require neuroimaging, but these are rare.

The timing of surgery (and, by extension, referral) is another important consideration. Traditional repairs of coronal, metopic, and frontosphenoidal synostosis are generally delayed until 6 to 10 months of age. However, the child with symptomatic increased ICP may require earlier repair. Moreover, sagittal synostosis repairs and endoscopic approaches are performed much earlier, some as early as 8 weeks of age. Delays in referral often lead to more extensive surgical repairs; early referral is, therefore, preferable, even in questionable cases of craniosynostosis.

There are many accepted surgical options for craniosynostosis that are influenced by which suture(s) are involved, the clinical indication, the experience and expertise of the craniofacial surgical team, and, most importantly, the timing of the operation. It is not the intent of this review to recommend any particular operative technique because they all have their merits.

Surgical techniques may include endoscopic suturectomy with helmet therapy, spring-assisted cranioplasty, and subtotal and complete calvarial vault remodeling. Advantages of endoscopic suturectomy include smaller incisions and less operative time and blood loss, but correction should be performed early (during the first few months of life) and followed by up to 12 months of postoperative molding helmet therapy (23 hours a day) to achieve correction comparable to open techniques. Spring-assisted cranioplasty is another surgical adjunct that can be used, in which spring-loaded devices are inserted temporarily to help distract the freed bones.

The advantages of open operative correction include more immediate and complete correction, without the need for extended molding helmet therapy. Disadvantages include a larger incision, longer operative times, greater intraoperative blood loss, and, for coronal and metopic synostosis, the need to remodel the superior orbital rim (which generally requires that the surgery be performed after the infant has reached 6 months of age so the orbital rim is thick enough to hold the surgical screws). A variety of open techniques exist, but surgical timing is important. Open sagittal synostosis repairs are performed much earlier (ideally between 2 and 6 months of age) than are metopic or coronal synostosis. Sagittal synostosis repair includes a midline or paramedian (so-called ) craniectomy coupled with a variable degree of posterior (parietal and occipital) vault reconstruction with barrel stave osteotomies. Later surgery (generally beyond 68 months of age) may require a more extensive total calvarial vault remodeling. Lambdoid suture repair is also, generally, performed early. In contrast, for open coronal or metopic synostosis, in which both cranial and orbital reconstruction are performed, later surgical correction, usually between 6 and 10 months, is preferred so that the orbital rim is thick enough to hold the surgical constructs used to advance and remodel the bone. All open surgical approaches involve a full release of the fused suture and immediate surgical remodeling of the skull; postoperative helmeting is not routinely used after open repair.

The surgical management of midface hypoplasia deserves special mention because it is a frequent component of syndromic synostosis. Severe midface hypoplasia can lead to airway obstruction that requires an immediate intervention, such as a tracheostomy to secure the airway. Definitive midface correction is usually performed when the child is older (68 years or more) and is usually accomplished by using distraction osteogenesis, in which the midface is surgically separated from the skull base and distraction plates are applied to the maxillary bones. By using distraction screws that are turned by the patient or family on a daily basis, the midface is slowly advanced forward, and bone grows in the intervening gap, much like an Ilizarov procedure accomplishes for long bones.

The most common head shape abnormality is deformational (also called positional or nonsynostotic) plagiocephaly (DP) or brachycephaly (DB). The incidence of DP/DB has been estimated at 20% to 50% in 6-month-old children.74 It is more common (approximately 60% of cases) in male children.75 DP/DB in 80% of cases presents as an acquired postnatal condition that is most commonly noted during the first 4 to 12 postnatal weeks, although 20% of cases appear to be noted at birth, likely attributable to intrauterine forces (relative fetal restraint, such as primiparity, oligohydramnios, multiple gestation, or bicornuate uterus).75 Eighty percent of cases are right sided, and the flattening corresponds to the side to which the infant naturally turns the head; this correlates well with observations made by Volpe76 that normal supine infants look toward the right 80% of the time, toward the left 20%, and almost never look straight up. In addition, 15% to 20% of infants with DP/DB have some degree of neck muscle imbalance or torticollis.75 It is now apparent that DP/DB is not synostotic but rather is caused by persistent pressure on the skull in the supine infant. The incidence increased significantly after the 1992 Back to Sleep campaign, which recommended supine sleep (although the decreased rate of sudden unexpected death in infancy certainly supports the continued endorsement of this strategy).74

It is important to differentiate DP/DB from true coronal or lambdoid craniosynostosis. The majority of cases can be readily identified by the history (as described above) and clinical examination. The infant is examined from the front, back, and, most importantly, top of the head. DP/DB is characterized by occipital flattening: unilaterally in DP (Fig 15) and bilaterally in DB. The ipsilateral ear is deviated anteriorly with respect to the contralateral side (which can be most readily identified by placing a finger in each ear and looking down from above the infants head); the pinna may be rotated outward as well. Finally, there is often some anterior displacement of the ipsilateral forehead. The resulting deformation results in a parallelogram head shape (Fig 15A) in which the entire ipsilateral head appears to have been displaced anteriorly. In contrast, the child with unilateral coronal or lambdoid synostosis will have a trapezoidal-shaped head with ipsilateral flattening of both frontal and occipital calvarium and posterior and inferior deviation of the ipsilateral ear, as discussed above. Patients with DP may have an element of facial scoliosis (Fig 15B). Although the ipsilateral orbit in DP may be slightly misshapen, the Harlequin orbit deformity observed in unicoronal synostosis is not present. Similarly, the bulging retromastoid area in lambdoid synostosis is absent in DP and DB. In DB, the occiput is flattened bilaterally, and the head is, therefore, brachycephalic and widened in the transverse dimension, leading to a round face. However, the absence of turricephaly, orbital retrusion, Harlequin orbit, and exophthalmos differentiate DB from bicoronal synostosis.

Occipital deformational flattening (plagiocephaly and brachycephaly). A, Vertex view of DP shows parallelogram-shaped head with ipsilateral flattening, anterior deviation of the ipsilateral ear, and mildly prominent ipsilateral frontal bossing. B, Frontal view shows the calvarium deviated toward the right but no elevated eyebrow and/or orbit or deviation of the nasal root or tip. Note the upward slanting cranial vault from patients left to right (Gumby deformity). C, Posterior view of DP shows flattened right occiput with parietal boss.

Other abnormalities observed in some cases with DP include an element of facial scoliosis. Some have elevation and shortening of the mandible with a hollow space in the submandibular region, superficially resembling hemifacial microsomia. This variant seems to be more common among those whose DP is present at birth and/or those with torticollis; it is suggested that perhaps the shoulder may lie within this hollow and restrict neck rotation in utero. Another less common variant of DP is what is referred to as the Gumby head shape in which, when viewed from the front, the ipsilateral calvarium is flattened and the vertex slopes upward toward the opposite side (Fig 15B).

A number of centers quantify the severity of DP and DB, both for the initial assessment and at subsequent follow-up visits, by measuring certain anthropometric indices with cranial calipers. The severity of DP is described by using the cranial vault asymmetry index (CVAI), which describes the difference between the longest and shortest head axes along the diagonal when viewed from above (Fig 16). In general, a CVAI of >3.5 is consistent with DP.74 The severity of DB is described by using the cranial index (CI), which measures the ratio of head width to head length when viewed from above. A CI of 85% is consistent with brachycephaly.77

Diagram showing the calculation of the (A) CVAI and (B) CI. See text for definitions.

The differential diagnosis of DP includes unilateral coronal and unilateral lambdoid craniosynostosis, both described above. In most cases, the diagnosis of DP or DB is readily apparent on clinical examination, and adjunctive imaging such as plain radiographis or CT scans is unnecessary and would expose the child to ionizing radiation. The use of imaging should be reserved for equivocal cases. Plain radiographs are usually difficult to interpret, except in cases of DB in which the occipital flattening is evident on lateral films. Partial nonvisualization or focal areas of calcification adjacent to the lambdoid suture may be identified on plain radiographs and CT scans but should not be interpreted as lambdoid synostosis. Axial CT scans readily differentiate DP and DB from coronal synostosis, demonstrating the parallelogram head shape, open coronal sutures, and normally formed anterior skull base with normal sphenoid wing and absent Harlequin orbit.

It is not our intent with this report to discuss treatment options for DP and DB. However, the parents of infants with DP or DB should be reassured that since the infant does not have craniosynostosis, surgery is not indicated; they should be counseled that DP and DB are solely aesthetic conditions, with no credible medical evidence suggesting that DP and DB affect brain development or cause any other medical condition. The head shape often improves as the child gains developmental milestones and lies less frequently on the flattened side.74 Supervised tummy time as well as varying head positions while holding the child can help; alternating head positions for sleep can be attempted, but, to reduce the incidence of sudden unexplained death in infancy, it should be emphasized that the infant should sleep alone, on his or her back, and in a crib (the ABCs of safe sleep). A recent study noted a correlation (not necessarily causal) between DP and poorer cognitive outcomes78; children with DP should, therefore, be monitored for possible developmental delays. The child with muscular neck imbalance or torticollis may be referred to physical therapy to teach the parents stretching and muscle strengthening exercises to reduce the tension of the sternocleidomastoid muscle and improve the strength of contralateral muscles. Use of a molding helmet may be considered for the infant with a moderate or severe deformity but is not required; a detailed evidence-based review of DP and DB treatment options can be found in a recent publication by the Congress of Neurological Surgeons and is endorsed by the American Academy of Pediatrics.7984

Two other common referrals to craniofacial clinics are concerns about early closure of the anterior fontanelle and microcephaly. Although the anterior fontanelle most commonly closes at approximately 12 months of age, there is a wide variation in the timing of fontanelle closure, with the fontanelle closing between 4 and 26 months.85 Moreover, it is important to note that closure of the fontanelle does not mean that the sutures are closed, nor does it mean that further calvarial growth is not possible. Rather, closure of the fontanelle simply reflects the apposition of the 2 frontal and 2 parietal bones in such a manner that a gap cannot be palpated, although sutures are still present. In fact, even after normal fontanelle closure, significant head growth continues throughout childhood. As long as appropriate head growth is occurring along the normal head growth curve and the head shape is normal, there should not be concern for craniosynostosis. However, other medical conditions can be associated with premature fontanelle closure, including hyperthyroidism, hyperparathyroidism, hypophosphatasia, and rickets.

Microcephaly is defined as a head circumference below the fifth percentile for age. There are numerous causes for microcephaly, some of which are listed in Table 3. Primary microcephaly may be genetic; multiple pathogenic variants with both autosomal-dominant and recessive inheritance patterns have been described. Other conditions are usually identified by history, physical examination, and/or neuroimaging. Important considerations include a family history of microcephaly, the presence or absence of developmental delays or cognitive impairment, and a past history of pre- or postnatal brain injury. Infants with normal developmental milestones, no past history of brain injury, and a normal head shape most often have constitutional microcephaly. Single-suture craniosynostosis virtually never causes significant microcephaly, although multisutural synostosis can. Craniosynostosis is rarely a cause of microcephaly in infants whose head circumferences, although low, are running parallel to the normal curve and who have both a normal head shape and no family history of craniosynostosis.86

Conditions Causing Microcephaly

Single-suture craniosynostosis produces consistent head shape abnormalities that should be readily identifiable by the pediatric health care provider. Sagittal synostosis produces an elongated head (scaphocephaly), and metopic synostosis produces a triangular-shaped forehead (sometimes with hypotelorism). Unilateral coronal and lambdoid synostosis as well as occipital DP all produce an asymmetric head shape (plagiocephaly) but are readily differentiated by the shape of the head (parallelogram versus trapezoid or rhombus), the position of the ears (anterior or posterior), and secondary features such as nasal deviation, orbital asymmetry, or bulging of the retromastoid region. Bilateral coronal and lambdoid synostosis produce a short head (brachycephaly) and are differentiated by the presence or absence of associated midface hypoplasia or bilateral retromastoid bulging.

DP and DB are the most common head shape abnormalities encountered by primary care physicians; they are readily identified by conducting a history and clinical examination and do not usually require adjunctive imaging. Early detection and positional changes (with physical therapy for those with torticollis) suffice for most infants; referral at 5 to 6 months of age is considered for helmet therapy for those who have moderate or severe deformities that have not responded to treatment.87

Because both single-suture craniosynostosis and DP/DB can usually be diagnosed on clinical examination, routine imaging for the initial evaluation of infant head shape is not recommended to avoid exposing the child to unnecessary radiation. Instead, timely referral of infants with craniosynostosis and those with moderate or severe DP/DB to an experienced craniofacial team (including both a pediatric neurosurgeon and craniofacial surgeon) will allow sufficient time for the team to help the family cope with the diagnosis, obtain any necessary imaging for surgical planning, discuss treatment options, and plan a timely correction.

Anticipatory guidance for parents of children with craniosynostosis should include monitoring for symptoms of elevated ICP or developmental delays, especially for those with multisutural synostosis, and a discussion about the importance of early and timely referral to specialists. Parents of children with DP or DB should be encouraged to initiate positional changes early and, for those with torticollis, should be taught neck stretching exercises and/or referred to a physical therapist. For those with moderate or severe deformities, consider a referral to craniofacial specialists to discuss molding helmets.

Children with craniosynostosis most commonly present with stereotypically shaped heads, each associated with particular sutural fusions:

long (scaphocephaly: sagittal);

short (brachycephaly: bicoronal or bilambdoid);

anteriorly pointed (trigonocephaly: metopic); and

asymmetric (plagiocephaly: unilateral coronal or lambdoid).

DP and DB are the most common head shape abnormalities, recognized by their parallelogram-shaped head, lack of retroauricular bulge, and, in 80%, absence of deformation at birth.

Syndromic craniosynostosis most commonly manifests with bicoronal synostosis, midface hypoplasia, and shallow orbits with exorbitism and strabismus.

Surgery is often performed within the first 8 to 10 weeks for sagittal synostosis repairs, endoscopic procedures, and raised ICP. Orbitofrontal advancements for coronal and metopic synostosis are most often performed between 6 and 10 months.

Early referrals to craniofacial teams are encouraged to allow early identification and repair.

Mark S. Dias, MD, FAAP, FAANS

Thomas Samson, MD, FAAP

Elias B. Rizk, MD, FAAP, FAANS

Lance S. Governale, MD, FAAP, FAANS

Joan T. Richtsmeier, PhD

Philip R. Aldana, MD, FAAP, Chairperson

Douglas L. Brockmeyer, MD, FAAP

Andrew H. Jea, MD, FAAP

John Ragheb, MDGregory W. Albert, MD, MPH, FAAP

Sandi K. Lam, MD, MBA, FAAP, FACS

Ann-Christine Duhaime, MD, FAANS

Jennifer Lynn Rhodes, MD, FAAP, FACS, Chairperson

See original here:
Identifying the Misshapen Head: Craniosynostosis and Related Disorders - American Academy of Pediatrics

The National Science Foundation has awarded Northern Arizona University a four-year, $1.5 million grant to examine survival strategies that natural systems might use to respond to the combined effects of environmental change and invasive species. The research effort is a collaboration among investigators at NAU, the Desert Botanical Garden and Arizona State University.

Owing to record increases in temperature and invasive species disturbance in Arizona and throughout the American Southwest, there is a pressing need to understand whether and how plants will be able to adapt to rapidly changing conditions owing to climate change.

Our overarching goal is to develop solutions to these threats using Fremont cottonwood, a foundation species that is recognized as being critically important for biodiversity conservation, said the projects principal investigator, Gery Allan, a professor of biological science and the Laboratory of Environmental Genetics and Genomics, and a member of the Center for Adaptable Western Landscapes (CAWL).

Our findings could serve as a model for adaptive management of arid regions around the world, including the familiar ribbon of green that accompanies rivers and streams in the western United States, Allan said.

This project will use a combination of experimental gardens composed of thousands of Fremont cottonwood trees and the National Ecological Observatory Networks (NEON) airborne remote sensing technology. The research team will examine the capacity these trees have to tolerate heat stress, drought and habitat disturbance caused by salt cedar, also known as tamarisk. Salt cedar is an invasive species that is a serious threat to riparian ecosystems in the Southwest.

Using NEONs airborne remote-sensing capabilities will allow us to scale measurements taken from greenhouse and common gardens to large parts of the Southwest, said Chris Doughty, one of the projects co-principal investigators and assistant professor of ecological and environmental informatics.

The team will build on techniques developed by project co-PI Greg Asner at Arizona State Universitys Asner Lab to critically evaluate the genetic responses of cottonwoods to environmental changes that occur across the species distribution.

Specifically, this study will determine if genetic differences among cottonwoods from warm to cool regions result in differing adaptive responses to a changing environment. For example, the research team will examine differing strategies cottonwoods use for regulating leaf temperature and carbon balance as an adaptive response to heat stress.

The research team also will investigate the ability of cottonwoods to produce naturally occurring hybrids that are better adapted to emerging conditions and the use of beneficial soil fungi to promote cottonwood survival in tamarisk-altered soils. The Desert Botanic Garden will develop the projects public outreach program, led by Kevin Hultine, one of the projects co-principal investigators.

This research is an outgrowth of three decades of work by NAU researchers in the field of community and ecosystem genetics using Fremont cottonwood trees. Cottonwoods support thousands of insects, birds and mammals, making their survival essential across the West, said Thomas Whitham, Regents professor of biological science, a co-principal investigator for this project and a CAWL member. I am very proud to be part of a research effort that offers potential solutions to climate change in Arizona and beyond for this critical species. I am equally proud that our research group is inclusive, creating opportunities for young female scientists like postdoctoral scholar Hillary Cooper and doctoral student Jaclyn Motyka Corbin, both part of the research team who contributed to the grants development.

CAWL was established as NAUs newest research center on May 5. CAWL seeks to promote robust scientific research to enhance sustainable management of ecological populations, communities and landscapes and to develop solutions to ecological problems across the American Southwest and Colorado Plateau.

Catherine Gehring, professor of biological science and co-director of CAWL, is also a co-PI on the project.

Lara M. SchmitCenter for Adaptable Western Landscapes

Continued here:
NAU awarded $1.5 million grant to examine how natural systems might adapt to increasing temperatures and invasive species - NAU News

Aaron Guzikowski: Ive been into science fiction for all my life, basically. My father got me into it, so its always been an obsession of mineand often just the way in terms of how I think about the world and try to think through these science fiction scenarios and try to understand the present day a little bit better. But I also have three young sons and, you know, just thinking about them and the encroachment of technology and what the future might bring: if should they ever be given the opportunity to start a new civilization, start from scratch, but they know what happened on Earth, you have all of that informationmaking that decision [of] what are you gonna take with you and what are you gonna try and leave behind? Is that even something were able to do, or are we so genetically programmed as human beings to keep falling back into these cycles? Is there some rut that we cant get out of, or is this something that we can free ourselves from and find some renewed sense of purpose?

I think a lot of sci-fi is asking exactly that right now. Ridley, how did you get involved?

Sir Ridley Scott: The script was fantastic. I was going to come in as a producer with my company [Scott Free Productions], but I was blown away by honestly the first three episodes, and I felt I didnt want to let this get away. I wanted to be involved in the casting of the characters, how it looksvery importantbecause with such a great script, you dont want it to go off the rails and become a bit more normal or the usual suspects. Really, the inspiration was the material.

Aarons spec script inspired some visual interpretations from you, which led to further shaping the series. Can you describe your collaboration?

Sir Ridley Scott: I read visuallythats the way my mind worksso when Im reading Im getting You know, the most visual medium in the world is radio, because your brain is gonna be better than any screen. And on a screen you are already focused on that and your brain is processing that, but its not thinking. I come from the generation just out of the war, [and] my mothers favorite thing to do was to sit on a Thursday night and listen to a radio show called Inner Sanctum. But she was so afraid to listen to the radio [alone], shed make my brother and I sit with her to accompany her. It would begin with a creaking door and footsteps, and a deep voice would say, Good evening friends, this is [your host Raymond Edward Johnson], the story for this evening is and hed go into a new story, and wed all be scared to death after the next hour.

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Raised by Wolves: Ridley Scott and Aaron Guzikowski Talk Parenting on a New Planet - Den of Geek