A geyser of dust engulfs the tires of Karl Millers silver pickup as the truck comes to an abrupt stop on a narrow dirt trail. Dodging the outstretched jazz hands of palmettos and the tangle of scrub on both sides, he slowly opens the back door to unload two soft, mailbox-size carriers covered with a bedsheet. Each contains precious cargo: a single Florida Scrub-Jay that Miller collected in the predawn gray from Ocala National Forest, just north of Orlando, and drove four hours south to Jonathan Dickinson State Park, an 18-square-mile coastal preserve near Palm Beach. The bonded pair in his truck are valuable not only because theyre among a shrinking number of Floridas lone endemic bird species, but also because Miller has hand-selected them, along with a few other families, to be a part of an ambitious experiment.

Over the past century, human development in Florida has split the jays scrub habitat into ever smaller pieces. Because the blue-and-gray, robin-size bird typically travels no more than five miles from home, this subdivision has shrunk the species deep gene pool to a series of tiny puddles. Now Sarah Fitzpatrick, a conservation geneticist at Michigan State University, is collaborating with Miller at the Florida Fish and Wildlife Conservation Commission to translocate 5 to 10 scrub-jays from Ocala to Jonathan Dickinson (or JD, as the locals call it). The pairs hope is that the offspring of the Ocala birds will mate with those at JD, giving subsequent generations a much-needed boost of fresh DNA.

This strategy, called genetic rescue, is neither high-tech nor new, but it is still relatively untested. Scientists have long hesitated to play God with the genes of wild animals, preferring to let evolution manage itself. But several small-scale successes using the tactic in the 1990s, including with the Florida panther and Greater Prairie-Chicken, have made the strategy a more palatable option for species that may be circling the drain. Were in such early stages of using this as a tool for conservation in general. I mean, theres only just a handful of kind of iconic studies that have done this so far, Fitzpatrick says.

At JD, Fitzpatrick, Miller, and research assistant Natasha Lehr carefully walk the carriers to a small half-circle clearing next to a stand of scrub oaks, whose arthritic limbs have braided together over time. Miller unzips one carrier, Lehr the other. Fitzpatricks job is to track where the birds go whenthey fly off. Millers bird, a male, makes it out first and perches on a nearby snag before dropping out of view into the dense brush. Seconds drag by. The male calls to the female, a strident pshpshpsh. Finally she shoots out in a streak of dull blue and gray and then she, too, disappears.

One factor that makes this prized species an ideal candidate for genetic rescue is the several decades of close study leading up to this moment. This work has demonstrated that the jays genetic health is a problem that conservationists need to be worried aboutand also has positioned Fitzpatrick to test a solution. Its a role that she was truly born into.

J

ohn Fitzpatricks love affair with the Florida Scrub-Jay began in 1972 as a summer intern at the Archbold Biological Station. The Harvard undergraduate made the long drive to the dusty town of Venus, then, as now, surrounded by cattle ranches and citrus groves. In the oppressive heat, he helped ornithologist Glen Woolfenden observe scrub-jays tending their offspring. Three years before, Woolfenden had noticed the fledglings at Archbold rarely left their nests. Instead, the youngsters stuck around for at least a year to help their parents raise the next few clutches before striking out. Even then these ultimate homebodies rarely went far. They wouldnt readily traverse any land that didnt look like home. Without contiguous scrub, the scientists realized, the jays would rapidly become isolated.

The work stretched into a 50-year study that provided insights on everything from the effect of food on jay reproduction to the birds dependence on landscapes burned by fire. Today decades worth of yellow Rite in the Rain notebooks fill waist-high bookshelves at Archbold, while index cards with old notes on nest activity occupy a metal filing cabinet. People ask, After 50 years havent you learned everything? But these 50 years give us a chance to ask questions that are brand new, says John, who is now director of the Cornell Laboratory of Ornithology in New York.

In 1988, when John moved his young family to Archbold to take over as the stations director, he had his two-year-old daughter Sarah in tow. Archbolds scrub-jays were a part of Sarahs life growing up, but she preferred to keep company with insects, reptiles, and amphibians. When a gopher tortoise she named Sammy lumbered into their backyard, Sarah raced to her bedroom, grabbed one of her fathers cast-off notebooks, and spent the next few hours sitting on the back porch of the familys white clapboard cottage noting every detail of what Sammy did. It was, John said, the first of many signs that Sarah loved the natural world as much as he did.

Meanwhile, John was watching the regions scrub-jay population in free fall, as predicted by those early observations. The dry, sandy scrub landscape the birds needed also attracted citrus growers and the developers of shopping malls, mobile home parks, and golf courses. The mid-century boom in air conditioning made Florida habitable for the masses, creating a Southern influx that fractured the wilderness needed by Florida panthers, which were among the first animals on the federal endangered species list in the late 1960s.

The scrub-jay, too, was declared federally threatened in 1987. By 1993 only 4,000 breeding pairs remained, a loss of more than 90 percent in a century. Since then, Miller says, their overall decline has continued. The jays are scattered over several hundred small patches of scrub that survive with the help of land managers (see Each Jay Counts). Every 3 to 12 years they light controlled fires, which maintain foraging habitat for the birds and clear the dense tangles of brambles where predators like the eastern coachwhip snake can hide. The Archbold study area, home to 80 families of scrub-jays across just about 2,500 acres, is one of the species remaining strongholds, along with Ocala National Forest.

Every month, a team led by Reed Bowman, who now directs the avian ecology program at Archbold, still bounces around the areas rutted dirt trails to keep up the long-running counts. Once the birds hatch between late March and the end of June, scientists begin the banding process and, since 1995, also take a drop of blood for genetic analysis. Even at Archbold, despite adequate habitat maintenance, they saw few scrub-jays coming to the reserve, likely because of the degradation of habitat around the station. The effect on Archbolds families was dramatic.

In 2013 population geneticist Nancy Chen, then working with John at Cornell, began analyzing some of the genetic data and mapping family trees. The birds, she reported in 2016, were becoming increasingly and surprisingly inbred. A healthy population with lots of genetic diversity plays with a full deck of 52 cards. Smaller populations have fewer cards, such that no matter how well the deck is shuffled between generations, chicks are still more likely to draw a pair thats harmful, which can lead to disease and death. The more closely related two parents, the lower their offsprings chances of reaching adulthood.

One sign of an inbred population is eggs that fail to hatch, which is occurring at Archbold with increasing frequency. If this was true at Archbold, it was likely the case elsewhere. It kind of freaked out the scrub-jay community, says Chen, now a researcher at the University of Rochester.

Chens scrub-jay work was groundbreaking for conservation biologists not only because it quantified the effect of inbreeding, Bowman says, but also because she showed that the influx of even a handful of outsiders could be crucial to the health of larger populations. These results also told Chen and her colleagues that simply protecting and expanding habitat wouldnt be enough to save genetically isolated populations of scrub-jays throughout Florida. The birds needed an infusion of fresh genes, and for that, they needed help.

A

lthough Darwin himself outlined the principle of genetic rescue, the actual practice remained hugely controversial for more than a century. Not only did many hold philosophical objections to the idea, they could also point to several natural and laboratory experiments in which translocating individuals failed in ways hard to predict in advancea high-stakes risk when dealing with small populations. One of the most famous was a 1950s field study in which ibex from Turkey and Sinai were brought to what was then Czechoslovakia. When the hybrid ibex gave birth at the coldest time of year, and the population died out, the move was deemed to be a bust. Likewise, in a lab experiment in the late 1980s, Scripps Institution of Oceanography researchers tried to see if tiny crustaceans from Baja California could mate with their counterparts off the coast of Vancouver. Although the first generation appeared fine, the second was not.

A chill settled over the field, but in the 1990s biologists in Florida couldnt sit back and watch as their native panthers were winking out. Only 22 remained in the stateand few were healthy. Texas pumas, scientists discovered, had the right balance of attributes to help: They were genetically different enough to bring in new variety while similar enough to allow crossbreeding. Florida panther numbers immediately rebounded, and the genetics of the population, now 120 to 230 animals strong, remains healthy today. At around the same time, scientists tried something similar with the Greater Prairie-Chicken, importing birds from Minnesota, Kansas, and Nebraska to bolster flagging numbers in Illinois. It, too, seemed to be a success.

In these cases, conservationists had turned to genetic rescue in a last-ditch attempt to save extremely imperiled species or populations. There was little choice. But to further refine and perhaps expand the use of genetic rescue, evolutionary biologist Chris Funk wanted to know how such a strategy actually affected the genetics of the resulting populationespecially when a species was only waning rather than near its curtain call. In these cases, there might be the potential to act earlier, with a different risk-reward calculus at stake.

Sarah joined Funks lab in 2010 to try to answer this question by studying Trinidadian guppies. Evolutionary biologists had noticed that the paper-clip-size fish living at a streams headwater looked and acted differently than those at the end due to differences in the number of predators. Whats more, in many streams, the guppies at the headwaters had become isolated from their downstream brethren, and their numbers seemed to be slowly declining. Slogging through Trinidads rainforests, researchers moved a small number of downstream guppies upriver, and Sarah studied the effects of the new guppies on the resulting headwater population guppy boom. Importantly, Sarah showed that the genes from the downstream fish didnt overpower the hybrid offsprings ability to survive in the headwater environment. This offered the best of both worlds: increased genetic variety, while maintaining headwater specificity. The work, Funk says, showed not just whether but how genetic rescue could work in the wild.

Sarah started her own lab at Michigan State University a year after Chen published her preliminary genetics studies. To Chen and John Fitzpatrick, it was becoming clear that the scrub-jays could benefit from such an experiment. Although Sarah preferred fish to birds, she didnt hesitate to return to her roots. Seeing an opportunity to apply her work, she, Chen, and her dad decided to collaborate to save the species that once perched on her head.

The research at Archbold provided an invaluable baseline: It offered a chance to understand how the genetic rescue process might work for the species, gene by gene. The data also supported Chen and Sarahs assertion that they wouldnt need to move hundreds of birds to JD to see a benefit; even a few families should provide a solid genetic boost to small, isolated groups. If they are successful, Sarah hopes their work could help conservation biologists consider the tactic in more cases. Funk, Sarahs former Ph.D. adviser, agrees: This is probably one of the best systems in the world to understand genetic rescue, he says.

Finding a donor population was easy. Miller had been banding and monitoring the birds at Ocala since 2014. Over that time, he had moved 49 jays from the national forest, home of more than one-third of the species, to bolster the birds numbers in nearby parks and had seen it hadnt harmed the Ocala population. The bigger question was where to put them. An ambitious new fire-management program at JD had opened acres of perfect habitat, leaving room for newcomers. Miller and John hammered out how to select the migrs and where to release them in the park. The researchers wanted healthy birds that had raised at least one fledgling, which would indicate their skill as parents and their genetic health. Since scrub-jays lived as families, theyd move them together.

In early 2019 the researchers moved a first family group, a total of three birds, from Ocala to JD, where there were fewer than 25 families left. That group did not successfully breed that year, something that Sarah and Miller expected might result from the stress of the move. But one breeding female either died or left the park between June 2019 and January 2020. The now single male was then spotted with a solo female at JD, making the team optimistic that the new, mixed pair might breed. The sign was encouraging enough that by January 2020, Miller, Sarah, and John thought it was time to try again.

L

ehr and Sarah climb a low rise at JD, binoculars at the ready, with Miller on their tail. In the trios laser focus on the scrub, an impenetrable snarl of cacti and cabbage palms, they almost miss the scrub-jay pair from Ocala doubling back, turning northwest on a short flight over the release site and onto a sand pine snag.

The team regroups in a clearing 20 feet behind the birds, while an Eastern Phoebe watches on. Miller appraises them, his round tortoiseshell glasses giving him an owlish look as he scratches at stubble from his 4 a.m. wakeup time. For several hours they watch the Ocala pair bounce between the snag and nearby scrub oaks, calling back and forth. Then the birds hop to the ground and fall silenta siesta to escape the pounding sun.

Scattered

About

Surveys of Florida

Scrub-Jay family

groups on conservation

lands reveal their

dwindling and patchy

distribution, according

to 2019 data.

Likely Extirpated or Extirpated

MAP BY JULIE ROSSMAN; DATA COMPILED BY ARCHBOLD BIOLOGICAL

STATION, USFWS, AND AUDUBON FLORIDA

Lehr, Sarah, and Miller meet early the following morning to check whether the home-turf jays have chased off their new neighbors. As the sun burns off the morning haze, the trio seeks the transplants on a ridge where they spent the night. Sarah cups her hands and calls to the jays. Her voice turns raspy and she gives up within an hour. Heading deeper into the park, Sarah coaxes a group of scrub-jays closer with peanuts, to see whether they might be the translocated pair. They arent. She squats to snap photos. Hello, she laughs. Are you guys inbred?

Breaking for a lunch of fish tacos, the team discusses their goals for the scrub-jays. Using utensils and a salt-and-pepper shaker as landmarks, they map out the states current populations on the table. Several other populations sit along the coast, trapped between built-up beachfronts and swampy lowlands. Restoring scrub habitat between JD and these areas could one day allow the populations to merge into a larger, healthier group that might not need humans to move birds at all.

Its a crucial long-term goal, says Marianne Korosy, director of bird conservation at Audubon Florida. Genetic rescue is, at best, only part of the solution, she says: We still have to have prescribed fire management, and we still have to have enough land set aside in conservation to grow populations of jays. The prairie-chickens of Illinois provide a cautionary tale. The movement of birds bolstered the states numbers, but because biologists didnt address the underlying causes that led to inbreeding, the population is once again imperiled. Similarly, humans will have to help scrub-jays for the foreseeable future, both by increasing their genetic diversity and by protecting their landscape.

In the coming years, Sarah and Chen intend to track the new transplants closely, collecting blood samples to evaluate the genetic health of birds at JD and at Archbold, where the populations ongoing isolation will serve as a long-term comparison. This work will also help identify the minimum size of a healthy scrub-jay population, a key piece of information for conservationists. If Sarah sees that the 2019 and 2020 transplants survive their first year or two at JD, then she and Miller may bring several more families to the park. The team discussed performing additional genetic rescues, including to Indian River County just north of JD, once a stronghold of the species.

Fortified by lunch, the group focuses their search for the translocated birds on the area where they were last seen yesterday. Several sweaty hours of trekking left their Carhartts studded with prickly pear spines, but no scrub-jays flew close enough to identify. Then, beneath a gnarled scrub oak, Lehr spots the blue-green-silver bands of the male from Ocala. She turns to Miller, just a few feet behind her, with a big grin. There. We got it, she says.

The jay hops once or twice, then flies several hundred feet to a sand pine, and its mate arrives shortly after. Lehr and Miller track their progress via binoculars. Sarah joins them, alerted by Lehrs excited text. The trio watches the birds until the late-afternoon sun fades and it becomes too dark to see. Only then do they turn back.

This spring the two birds stayed together. Although they built a nest, the eggs disappeared before hatching. Its not ideal, Sarah says, but given the jays generally high rate of nest failure, it wasnt alarming. She remains cautiously optimistic that the birds will thrive in their adopted home, forging new family bonds among the dry, sandy scrub.

This story originally ran in the Winter 2020 issue as The Key to Saving Florida Scrub-Jays May Run in the Family.To receive our print magazine, become a member bymaking a donation today.

See original here:
How Researchers Hope to Save the Florida Scrub-Jay From an Inbreeding Crisis - National Audubon Society

Recommendation and review posted by Bethany Smith

Earlier this week, the stand-up comedy star, 58, appeared on Sky Arts series Portrait Artist of the Year in which the shows host Stephen Mangan and contestants referred to Izzard as she and her.

Izzards fans, who were catching up with the show at the weekend, have posted supportive messages on social media.

The show is the first televised appearance in which Izzard has been referred to with her chosen pronouns.

Speaking about her decision, the British Comedy Guide reports Izzard as saying: " This is the first programme I've asked if I can be 'she' and 'her' this is a little transition period."

She said it feels very positive, adding: I just want to be based in girl mode from now on.

Many used the opportunity to highlight how much they love the comedian and political activist.

Independent Culture NewsletterThe best in film, music TV & radio straight to your inbox every week

Independent Culture NewsletterThe best in film, music TV & radio straight to your inbox every week

I cant tell you what she means to me as a comic, Shappi Khorsandi wrote.

Rocked my comedy world when I was a teen and beyond. Changed everything, made room. I love her and this morning Im very happy for her.

Writer Shon Faye added: Good for Eddie Izzard asking for the pronouns she/her to be used so publicly. As far as I can gather, she isn't a trans woman she's gender fluid but prefers the feminine pronoun. Good for her

Eddie Izzard on Sky Arts show Portrait Artist of the Year

(Sky Arts)

I love Eddie Izzard and hope she gets everything she wants in this life, another Twitter fan wrote.

In 2017, Izzard told The Hollywood Reporter: "I am essentially transgender. I have boy mode and girl mode. I do feel I have boy genetics and girl genetics."

Izzard appeared on the series seven finale of Portrait Artist of the Year, which saw contestants attempt to capture her likeness.

During her appearance, she tells them: I think everyone should and must make life an adventure.

Read the original:
Eddie Izzard praised after fans notice use of she/her pronouns in latest TV appearance - The Independent

Recommendation and review posted by Bethany Smith

Breast cancer can be devastating, and unfortunately, its not uncommon. There are more than 35 million women with a history of breast cancer in the U.S., and its death rates are one of the highest among all cancers, exceeded only by lung cancer.

Considering some women inherit gene mutations that can increase their risk of a diagnosis, genetic testing, which uses DNA to identify harmful mutations of the BRCA 1 and BRCA 2 genes as well as other high-risk gene mutations, can be an invaluable resource for those who meet the testing criteria. That gauge includes those with a personal history of certain types of cancers, those who experience an early age onset of certain types of cancer (this is generally defined as 50 and younger) and those with a combination of certain types of cancers (such as breast, ovarian, prostate, and pancreatic) within their family history.

Armed with information from a genetic test, genetic counselors can then equip people with the information needed to make an informed decision, says Altovise T. Ewing, PhD, LCGC, a licensed, certified genetic counselor and genomic health equity scientist. In some cases, a genetic testing result could help guide the type of treatment that is offered to a patient or it could allow us to better tailor and personalize the types and frequencies of screening modalities that are recommended.

And your results may not just be beneficial to you. The information is also helpful for family members because if we know that there is a gene mutation present in the family, then we know that first-degree relativeschildren, siblings, and parentshave a 50 percent chance of carrying that same gene mutation. says Ewing. In some instances, this could help prevent the occurrence of cancer in family members or offer the opportunity for early detection.

These four womenall in different parts of their journeyreceived genetic testing. Here, they open up about their diagnosis, why they got genetic testing, and how it informed the next steps in their fights against cancer.

Note: When considering genetic testing, its important to talk with your physician about if and how it may benefit you.

Lyndsay Levingston

In the summer of 2019, Lyndsay Levingston Christian felt a lump in her right breast while doing a self-exam in the shower. Fear washed over her. I was scared to even think it was the C word, Christian says. But after numerous screeningsa regular mammogram, a 3D mammogram, an ultrasound, and a biopsy of the grape-sized mass, which hurt so bad, her worst fears were confirmed. Her doctor diagnosed her with Stage IIB breast cancer. I cried and cried, says Christian.

Christian, who is a multimedia talent and host, and an adjunct communications professor who teaches media writing, relocated from New York City back to her hometown of Houston to undergo treatment. This way, her family could be nearby to support and care for her. Her plan: Fifteen rounds of chemotherapy (which she started in August 2019), a lumpectomy to remove any remnants of the mass, and six weeks of radiation. In October, midway through Christians treatment, she received a call from a paternal female cousin who was diagnosed with breast cancer at age 29, making her aware of her familys history with the BRCA 1 gene mutation. I learned that Im the thirteenth women on my dads side to be diagnosed with breast cancer, Christian says.

Because of this new information, her care team advised she have a genetic test. The results revealed I was positive for the BRCA 1 gene mutation, which puts me at a higher risk for breast and ovarian cancers. (According to the Centers for Disease Control and Prevention, 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes.) The news put a wrinkle in Christians surgical treatment plan. In fact, it totally flipped her plan on its head. I went from thinking I was just going to have a bit of tissue removed to my doctor now recommending a bilateral mastectomy to remove both of my breasts. And based on the results of that, no radiation, prayerfully, would be needed.

The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey.

On December 30, Christian rang the bell, a tradition among cancer patients signaling the end of chemotherapy. It was very symbolic for me. It was me ringing out of this part of my journey and ringing into the new year chemo-free. Since then, Christian has had a bilateral mastectomy, gotten reconstructive breast surgery, and has also had her ovaries and fallopian tubes removed as a preventative measure. And on February 14, 2020, her doctor called to let her know she was in remission.

Looking back, Christian, who wasnt as close with her dads side of the family, wished she had been more knowledgeable of her family health history. The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey, she says. Yet she is still grateful for what she went through.

I got to reconnect with my mom and other family members during my treatment. I launched SurThriver, a platform that informs, inspires, and empowers women around breast cancer awareness and wellness, she says, adding, And most importantly I am alive.

Tina Pirozzoli

Last year, Deltra Kroemer, a full-time homeschool educator, began doing regular breast self-exams. Her decision came after she saw a friend, whod recently caught her breast cancer early, post on Facebook about the importance of the monthly exam.

During one of Kroemers self-exams, she noticed a good-sized lump. She wasnt worried since she didnt really have a family history of breast cancer, but decided to get it checked out anyway. Kroemer went to her long-time doctor who also felt the lump, and subsequently made her an ultrasound appointment, during which the technician became concerned and called for the doctor, who then scheduled a biopsy. At that point, I was in what is called scanxiety in the cancer community, and I hadnt even been diagnosed yet, she explains.

A few days later, while in the midst of baking with her five daughters ages 14, 13, 10, 7 and 5 Kroemer received a call from her oncologist. She took the call in the bathroom so she could have privacy. Her doctor said that unfortunately the results werent what we were hoping. Its cancer. In shock, Kroemer gathered herself, took a deep breath, and went back to baking with her kids. I didnt really give myself the opportunity to have a breakdown until later that day. And her diagnosis certainly didnt feel real to her until she heard herself telling her husband, her mother, and her sister.

Kroemer would not find out for another month that her diagnosis was De novo Stage IV metastatic, meaning her cancer had already spread beyond her breasts at the time of her initial diagnosis. (The majority of patients with this type of cancer do not survive for more than 5 years after diagnosis.) The cancer was already in my liver when I was screened for staging, she explains. Kroemer immediately began researching, speaking with other cancer patients with her same diagnosis, and getting second opinions. People thought I was crazy because I took a whole month to decide what I wanted to do, but there was no rushing me, explains Kroemer, who said she was arming herself to start her battle, which began in August 2019.

Whats more important to me is not the time that I have left but what I do with that time.

Her doctors had ordered several tests right off the bat, including a genetic test, so Kroemer knew she had the BRCA1 gene mutation. Kroemer asked her team to consider her chances of developing other cancers, like ovarian, which was higher for her, with her mutation, than for the average person. So, as a preventative measure, she had her ovaries removed at the recommendation of her care team.

Genetic testing also put her on alert as it pertains to the health of her daughters, since they, too, can have the gene mutation. While they are too young to be tested, I do talk to my oldest children about the gene mutation Im living with, she says. Not often, as I don't want to create anxietyhaving a mother who is living with cancer can do enough of thatbut I do want them to understand the increased risk, she says.

Despite a Stage IV diagnosis, Kroemer didnt want to just start with hardcore chemo, which is one reason she and her care team decided to do immunotherapy followed by chemotherapy. Initially Kroemer responded well to her treatment course, which required her to be at the cancer center for three and four hours at a time. It shrunk the mass in her breast way down and knocked out the singular metastasis on her liver. By April 2020, though, she could feel the lump in her breast again. A mammogram and a biopsy confirmed her lump had started re-growing, its biology had changed, and the current treatments were no longer working.

While Kroemer, who is currently considering having a lumpectomy, is still undergoing treatment, she still reminds herself to Live your life to the fullest. Whats more important to me is not the time that I have left but what I do with that time. I am thinking about the legacy I want to leave.

Most of the women on Carmela Fucas maternal line have breast cancer, including her mother and grandmother. Through genetic testing, her mother tested positive for a BRCA gene mutation (and later had a double mastectomy), prompting both Fuca and her brother to also have genetic testing. Fuca, who then was about 25, found out she too was positive for the mutation.

My initial reaction was I am going to get a preventive double mastectomy right away, says Fuca, who had just graduated from Teachers College at Columbia University and was about to move to England to start her career. But after thinking about it more, she decided she wasnt ready to have an elective surgery, so she put a pin in it. Its really hard when you are completely healthy to have a surgery like that, she says.

However, as Fuca neared 30, she decided it was time, and scheduled her double mastectomy for February 2020. My mother was 41 when she was diagnosed with breast cancer. With each generation the cancer usually occurs earlier. So I knew as I got older, my risk of cancer was increasing, Fuca says. Two weeks prior to her surgery, Fuca began grieving the impending loss of her breasts.

I was really upset, stressed out and crying all the time, and I realized that it wasnt doing me any good. So, to mentally prepare myself for my surgery, I started to look at myself and appreciate my natural body. One day I was touching my breasts and I thought my tissue isnt going to feel like this anymore, she says. Thats when she felt a golf ball-sized lump. Fucas biopsy results, which she learned the morning before her surgery, revealed she had breast cancer, but they were unable to tell whether it was Stage II or Stage III. (A week post op, her oncologist informer her it was Stage III Triple Negativea very aggressive form of cancer.)

The month between chemo and radiation was probably the hardest part of this whole journey. I was able to stop just coping and actually deal with all of my emotionsit was rough.

Her doctor encouraged her to come in to talk through other possible treatments, like chemotherapy, but Fuca just wasnt able to process what her doctor was telling her. I was instantly full of anger and regret, she says of her decision to wait so many years to have surgery, thinking that if she had acted sooner, she may not have cancer now. Plus, she had scheduled a photo shoot to preserve the memory of her breasts and she didnt want her recent diagnosis to ruin that, so she suppressed her feelings and told her family she didnt want to talk about it. The next day, she went in and had her double mastectomy.

After the surgery, she learned the cancer had spread to her lymph nodes and that she would need additional treatment. Concerned that chemotherapy would cause reproductive issues, Fuca and her partner had to jump from family planning mode to fertility preservation. After completing in vitro fertilization (IVF), Fuca did four months of an aggressive regimen of chemotherapy, had a month break, and then resumed treatment with radiation for another three weeks. The month between chemo and radiation was probably the hardest part of this whole journey, says Fuca. I was able to stop just coping and actually deal with all of my emotionsit was rough. Not to mention COVID-19 made things harder as she was forced to do all of her treatments alone.

These days, Fuca, whose blog Previvor2survivor is a resource for prevention, treatment tips, fertility preservation, and mental wellness, says she is starting to regain her strength and energy. She also notes that this process has taught her to be kinder to herself. Ive gotten good at reframing my perspective, she says, knowing when I can be tough and when I cant and when I can be positive and when its not realistic.

Brenda Dixon

Two days after Brenda Dixon, a retired Georgia Public Health Medical Laboratory technologist, had her annual mammogram, she got a call saying that they had found something on her scans. The mass was at 12 oclock on her right breast and roughly 5 mm in size. She was told that she needed to come back in for further testing so that they could determine whether it was a benign cyst or cancerous. So Dixon went back in to see her doctor and have an ultrasound. Two days later she received her results: It was Stage I breast cancer and it was hormone receptor positive, which is a slow growing, non-aggressive type of cancer. I remember seeing the number on the caller ID and knew it couldnt be good, says Dixon.

I will never forget that call. I was happy that they at least caught the cancer early, so I felt some relief, but the stress and anxiety of the cancer was still building. It was devastating.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer on her fathers side.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer thyroid, ovarian, prostate, and breast on her fathers side. Dixon decided to take the test. Initially, the discussion, based on the size of the mass and that it was Stage I, was to have a lumpectomy as opposed to mastectomy, she says. Dixon decided to go with her doctors recommendation, but kept in mind that if the genetic testing results showed that she had any cancerous gene mutations, she would consider a mastectomy. It turns out I didnt have any mutations, so we decided to continue with the original plan of a lumpectomy, which Dixon had on November 5. And even though Dixon did not test positive for any hereditary gene mutations, she says that she has been sharing the information with her family and encouraging genetic testing because of their family history.

During her lumpectomy, the doctor also took out her sentinel lymph node, which is located in the underarm closest to the breast cancer to check and see if the cancer had spread. Thankfully Dixons lab results came back clear, and she will be soon be starting radiation. Her team has not yet determined if she will need chemotherapy.

As Dixon continues on her journey, she notes that her strong support system has been integral in helping her stay on top of all of the information being thrown at her, keeping her spirits up, and for those who have experienced their own cancer diagnoses, serving as a source of inspiration. I look at how they came through it and that means I can too, she says, noting that one of the most important lessons shes learned during this process so far is to pay attention to your body. It talks to you, we just dont always pay attention.

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Excerpt from:
4 Women Share The Role Genetic Testing Played in Their Breast Cancer Treatment - Oprah Mag

Recommendation and review posted by Bethany Smith

Genetic Testing to Establish Strong Foothold in Current and Future Healthcare System

The notable rise in the demand for hereditary genetic testing over the past few years is one of the major factors that is expected to fuel the growth of the global genetic analysis services market in the upcoming decade. Technological advancements coupled with the drive to discover new and innovative genetic analysis techniques are set to shape the overall growth trajectory of the global genetic analysis services market during the forecast period. Over the past decade, the genome testing sector has witnessed consistent developments due to which, the global genetic analysis services market is anticipated to expand at an impressive rate during the assessment period.

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Hereditary genetic testing has emerged as ideal, and a rapidly evolving technology within the genetic analysis services market. This is likely to continue, owing to advancements in technology and findings of research activities. The increasing demand for improved and cutting-edge prediction and diagnostic tools and services coupled with surge in demand for disease monitoring is anticipated to play a key role in the overall growth of the global genetic analysis services market during the assessment period.

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Healthcare experts and credible researchers around the world are of the opinion that genetic testing is expected to be the future of the healthcare ecosystem. Advancements in the biomedical field coupled with the notable rise in the number of companies that are developing new genetic-testing kits are expected to augment the global genetic analysis services market during the forecast period. Moreover, as interest levels for precision medicine continues to witness sizeable growth around the world, as a result of which the demand for genetic analysis services is projected to grow at an impressive pace.

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Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market

Advancements in the genetic technology are likely to play an instrumental role in shaping the growth trajectory of the global genetic analysis services market during the forecast period. Furthermore, due to advancements in technology, the scope of genetic testing has widened by a considerable margin due to which, the demand for genetic analysis services is increasing. While genetic analysis services in the past were largely time-consuming and cumbersome, at present, increasing speed and availability of genomic testing are anticipated to present a plethora of opportunities to the players involved in the current market landscape for genetic analysis services.

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In addition, the gradual shift in the point of access to testing is evolving, as more number of consumers can avail genetic analysis services outside the healthcare setting. Advancements in genetic medicine at the back of advancements in technology are likely to bolster the growth of the global genetic analysis services market during the assessment period.

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Research and Development Activities in Full Swing amid COVID-19 Pandemic

Research and development activities are expected to continue in full swing amid the ongoing COVID-19 pandemic. The significant rise in the demand for genetic counseling services during the ongoing COVID-19 crisis is anticipated to generate consistent revenue for the players involved in the genetic analysis services market. Furthermore, researchers and scientists are increasingly focusing on discovering genetic mechanisms that are required to prevent the spread and transmission of the novel coronavirus disease. Genetic research is estimated to unlock various intricate details of the novel coronavirus, thereby opening up new opportunities for mitigation. The ongoing research pertaining to genetics and its correlation with the ongoing pandemic is expected to provide a detailed and microscopic understanding of the overall cellular mechanisms of the virus.

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Genetic Analysis Services Market: Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market - BioSpace

Recommendation and review posted by Bethany Smith

"GBinsight reflects the biological complexity of humans and, through comprehensive genetic testing and analysis, facilitates precise diagnosis and targeted treatment and prevention," said Dr. Mendel Roth, Senior Scientist at GBinsight.

SAN DIEGO (PRWEB) December 17, 2020

Genetics was a major theme of the National Lipid Associations (NLA) Scientific Sessions, December 2020. Genetic testing for lipid disorders, polygenic risk scores for atherosclerotic cardiovascular disease (ASCVD) and the implications of genetics on clinical care, medical ethics and identifying individuals at high risk and preventive strategies were among the headlining topics. The clinical utility of GBinsight comprehensive genetic testing and analysis was highlighted by several leading physicians and scientists throughout the sessions.

Dr. Christie M. Ballantyne, Professor of Medicine and Genetics at Baylor College of Medicine, started off his presentation reflecting on the current state of clinical cardiovascular genetics, noting how wonderful it is to see where we are now and what the impact of genetics will be on how we practice preventive cardiology. Dr. Ballantyne then reinforced the statements of a previous presenter and another client of GBinsight, Dr. Zahid Ahmad, Assistant Professor of Medicine at the University of Texas, Southwestern, highlighting the clinical benefits of genetic testing for dyslipidemias and ASCVD patients including how definitive diagnoses increase the likelihood of payer coverage and provide more accurate risk stratification, enhance cascade screening that may prompt initiation of therapies at an earlier age, and allow for more precise medication regimens.

Drs. Christie Ballantyne and Zahid Ahmad, both GBinsight collaborators, emphasized that there is a 50% chance of passing on heterozygous familial hypercholesterolemia (FH) to ones children. Genetic testing is the preferred method for screening young family members of adults with FH. The earlier a person is diagnosed, the sooner he or she can begin lifestyle and drug therapies that reduce risk of ASCVD.

The clinical applications of GBinsight were demonstrated by several presentations and posters from Baylor College of Medicine, UT Southwestern, and the University of Pennsylvania. Case studies of patients referred for severe hypertriglyceridemia, pancreatitis, and type 2 diabetes were showcased. GBinsight's Comprehensive Dyslipidemia Panel identified pathogenic genetic variants causal for familial partial lipodystrophy (FPLD) in these patients and allowed physicians to identify precise diagnoses and offer precise therapies. GBinsight analyzes the multitude of pathways that cause severe hypertriglyceridemia beyond LPL deficiency.

GBinsight recognizes the biological complexity and heterogeneity of humans and, through comprehensive genetic analysis, facilitates precise diagnosis. GBinsight comprehensively analyzes the genetics of the multitude of pathways that can cause dyslipidemia and ASCVD in a single assay, said Dr. Mendel Roth, Senior Scientist at GBinsight.

GBinsight differentiates itself from other genetic testing services in several important ways: 1) Since ASCVD risk is ultimately determined by additive risk factors, GBinsight analyzes broad risk categories within a single comprehensive assay. This includes hypercholesterolemia, hypertriglyceridemia, reverse cholesterol transport defects, high Lp(a), homocysteinemia, familial obesity and familial diabetes. The analysis includes copy number variations that are a common cause of dyslipidemias. 2) Analyzes both rare, large-effect sized, monogenic variants largely in coding and splicing regions of genes as well as common, small-to-moderate-effect sized variants that contribute to polygenic risk in a single assay. 3) This assay includes full coverage of the APOE gene that is an underappreciated genetic cause of dyslipidemias and ASCVD. The APOE gene presents a technical challenge in getting quality sequencing results. 4) Analyzes both single nucleotide polymorphisms (SNP) known to increase and decrease Lp(a) levels as well as directly quantifies the variable Kringle-IV region. 5) Analyzes pharmacogenomics including the multiple genetic causes of statin intolerance.

GBinsight is the only next-generation sequencing (NGS) test that can directly quantify the variable region within the LPA gene which is the single greatest cause of high Lp(a), said Dr. Roth. GBinsight employs a machine-learning algorithm that assesses the comprehensive genetic basis of high Lp(a).

GBinsights scientific team has collaborated with key clinical opinion leaders to explore and validate the clinical utility of comprehensive genetic analysis for dyslipidemia and ASCVD. For example, using monogenic and polygenic analysis, up to 80% of patients referred to GBinsight for FH and other dyslipidemias was correctly identified. Of those with high Lp(a), validation results showed an overall accuracy of 84% with a sensitivity of 82% and specificity of 87%. Including the direct quantitation of the variable polymorphism increased the accuracy call by 23 percentage points. These results were formulated in partnerships with Drs. Christie M. Ballantyne, Michael Davidson at University of Chicago, Patrick Moriarty at University of Kansas, and Sotirios Tsimikas of University of California, San Diego and presented at the NLA Scientific Sessions.

GBinsight NGS services are performed at a CLIA-certified and medically licensed genetic testing laboratory using Illuminas HiSeq platform.

GBinsights Test Catalog includes the following:

Because genetic risk for most common metabolic diseases can be mitigated by dietary and lifestyle factors, in addition to GBinsight comprehensive genetic analysis, GB HealthWatch also developed the HealthWatch 360 mobile app for delivering dietary and lifestyle interventions to the general population. The app works in conjunction with the HealthWatch 360 Research Portal, which allows researchers to manage and analyze the diet, exercise and health data collected with the mobile app. Integration of GBinsight genetics panels with the research portal advantageously enables researchers to study gene-gene and gene-lifestyle interactions in observational and interventional cohort trials. With this system, prevention and medical intervention strategies, and especially dietary interventions, for complex diseases can be experimented with, validated and refined. Given the epidemic of diet-induced chronic diseases in the United States and worldwide, it is imperative that we focus our efforts on precision nutrition as a key preventive strategy for improving the health of our future.

GBinsight was developed by GB HealthWatch in partnership with the Otogenetics Corporation, a CLIA-certified and licensed medically licensed genetic testing company.

About GB HealthWatchGB HealthWatch is a nutritional genomics company. We develop state-of-the-art technologies to facilitate research on the molecular mechanisms, clinical efficacy and cost-effectiveness of translating genetic insights into personalized prevention and treatment strategies for complex diseases. GB HealthWatch offers the following tools:

About Otogenetics CorporationOtogenetics Corporation is a CLIA-certified and licensed medical genetic testing company specializing in next generation sequencing services. Otogenetics offers high quality services for genome, exome, and RNA-seq for government and academic institutions, biotechnology and pharmaceutical companies, as well as medical doctors and clinics. Additional services and products provided by Otogenetics Corporation can be found at: http://www.otogenetics.com

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Clinical Utility of GBinsight Comprehensive Genetic Testing Showcased at the 2020 National Lipid Association's Scientific Sessions - PR Web

Recommendation and review posted by Bethany Smith

Context

The promise of precision medicine hinges on our ability to use highly personal data about individuals and populations to prevent, screen, diagnose or treat patients with disease.

Healthcare providers are increasingly using genetic information as a routine part of prenatal, pediatric and cardiovascular care. The use of genetic information is even more common in the areas of rare disease, oncology and pharmacogenomics (looking at how genes affect a person's response to drugs).

Beyond these more specialized disciplines, population screening for actionable hereditary health risks is of interest to many healthcare organizations. The explosion in popularity of direct to consumer genetic testing is allowing many members of the public to learn more about their predisposition to certain health conditions like cancer and heart disease. Patients and the general public want to consider this information in health and healthcare decisions, and researchers, along with innovators in the genetic testing and support services industry, are increasingly advocating for its inclusion in clinical practice.

Many experts and innovators argue that genetic testing should become a routine part of clinical care as a means to identify and treat diseases. It would enable a more proactive approach to identifying risks and establishing management strategies for a population-wide precision medicine experience.

Most healthcare organizations and physicians are not incorporating these tests into routine practice. After an extensive scoping exercise, the Forums precision medicine team found that the most significant barrier to moving genetic testing into clinical practice for broader populations is the lack of coverage for genomic testing i.e., that a physician or healthcare institution will not be reimbursed for the process of ordering and returning the results of a test.

While this is an over simplification of the complexity of the situation, there is general discomfort that the science on which many of todays genetic and genomic tests are based is still evolving, and thus many physicians and payers are unsure of the utility of genetic testing to drive clinical care decisions in the large, diverse populations they serve.

We plan to explore, design and test incentives to accelerate building the evidence base for clinical efficacy and utility as a way to increase coverage of genetic testing and screening. Increasing the evidence base serves two purposes: to improve physician comfort with the clinical utility of such tests and to demonstrate to payers that tests do elicit action for the populations that they cover. Increasing the incentives for payers to cover genetic tests would allow clinicians and patients to significantly contribute to building the evidence base for the utility of genetic tests in real world settings. This in turn enables population-wide genetic testing that, over time, will drive our ability to personalize the way we treat, mitigate or manage health risks to patient populations. This project will involve several steps:

- Validate key barriers to genetic screening and testing, considering different models of healthcare delivery, cultural and ethical expectations, and stages of healthcare-system development

- Determine which genetic testing use case(s) can be the focus of stakeholder dialogues and activities

- Create original, new analysis of the economic value of genetic testing across four use cases: cancer testing, rare disease testing, population health testing, and carrier testing

- Identify, design and pressure test incentives to address the gaps leading to low or inconsistent levels of coverage

Impact

The project will address a foundational element of precision medicine: our ability to effectively deploy genetic screening and testing into routine clinical care. To do so, healthcare providers must be confident that genetic screening tests provide them with value and with actionable results for the populations which they serve. Payers need to know that tests are clinically actionable, and lead to improved outcomes for patients. This project will focus on the value of genetic testing and incentives to generate sufficient proof of the utility genetic testing for healthcare providers and the payer community globally.

Excerpt from:
Moving Genomics to the Clinic - World Economic Forum

Recommendation and review posted by Bethany Smith

For years, Summer Heidedidn't eat spicy food because the slightest indigestion would trigger fears that she had stomach cancer.

She would lay awake at night, terrified that she would die and leave her children without a mother.

Heide, a32-year-old farmerfrom southeastern Saskatchewan, isn't a hypochondriac. A rare and deadly stomach cancer runs in her family, andsince learning she inherited a gene mutation that could cause cancer,she's beenforced to make agonizing decisions andtakedrastic steps to save her own life.

"It was just too much fear over the unknown," Heide said. "There was always the little bit of 'When is the ticking time bomb going to go off? When might I get the cancer?'"

Heide was only a toddler when her aunt, RoseMarie Lawrence, passed away from stomach cancer in 1991. She was just 29 years old.

That kind ofstomach cancer, known as diffuse gastric cancer, isparticularly sneaky. Cancer cells grow in loose clusters not a tumour that can easily move and multiply in the stomach lining. Initial symptoms, such as heartburn, seem innocuous.By the time the cancer is detected, it's usually too late.

Heide's uncle, Luke Lawrence, RoseMarie's husband, remembers asking the doctor whether their two children were at risk of getting the cancer.

"I was very concerned for my children because I knew nothing about cancer," he said. "[The doctor] says, 'Cancer is not contagious.' At that time, they didn't know anything about hereditary forms of cancer."

Sixteen years later, his daughter Erin, Heide's cousin, was diagnosed with the same cancer that had killed her mother.

She was 20 years oldand passed awaywithin seven months.

Before she passed away, doctors suggested Erin getgenetic testing. She took a blood test, one that didn't exist before her mother died, and discovered she had a rare mutation in the CDH1 gene that causes Hereditary Diffuse Gastric Cancer Syndrome. It's a disorder that can pass down through families and puts people at a high risk for developing stomach cancer at a young age.

A child has a 50 per cent chance of inheriting the gene mutation from a parent who is a carrier.

"We didn't know none of this until it was far too late because Erin had already been diagnosed with Stage 4 of this form of cancer,"Luke Lawrence said."So [the testing] was to create an awareness for the family, more so than what we could do for Erin. That's why we did it."

The family calls it "Erin's Gift."

In 2007, Heide and seven other family members went for predictive genetic testing to see if they also carried the gene mutation. Five tested positive, including her grandmother, her fatherand herself.

Heide was 19 when she got the results.

"It was devastating, obviously, but I think I was so young and naive that I didn't actually think about what that meant," shesaid.

What it meantwas Heide'schances of developing the deadly stomach cancer by age 80 were as high as83 per cent. Womenwho have themutationalso have an estimated 60 per centrisk of developing lobular breast cancer in their lifetime.

WATCH | Rare and deadly stomach cancer runs in Saskatchewan woman's family:

Demand for cancer-related genetic testing has increased exponentially over the past two decades, according to the Canadian Association of Genetic Counsellors. Referrals tosome genetic testing clinics in the country have doubledor even tripledin recent years.

"Patients are more aware of it, physicians are more aware of itand the testing has become better. The technology has improved," said Ingrid Ambus,a genetic counsellor at North York General Hospital in Toronto, adding that testing can now diagnose hereditary cancer syndromes beyond the more common ovarian and breast cancers.

Less than 10 per cent of cancers have hereditary causes, but researchers have identified more than 80 genes in which mutations can be passed down through families and potentially cause cancer.

Ambus said patients often find it"empowering" to know that a cancer runs in their family so they can seek counselling, screen for the cancer, make lifestyle changesor have preventative surgery.

A genetic counsellor advised Heide that the only way for her to prevent aggressive gastric cancer would be to remove her entire stomach, a procedure called a prophylactic total gastrectomy.

She met with a surgeon in 2007but was toldthere wasn't enough clinical information available at that time to guarantee that she could have children after a total gastrectomy.

She decided to wait.

Soon, she would have to make another difficult choice.

When Heide and her husband were ready to have children, they had the option to do in-vitro fertilization (IVF) with pre-implantation genetic diagnosis on her embryos. That would have allowed them to only implant embryos that didn't have the mutation.

"I didn't want to do that," Heide said. "I do feel like some feel, like, it's a little bit selfish, because I could spare my kids from having the gene. But I wouldn't get the kids that I have if I were to choose that, and I would never choose anybody different."

After Heide and her husband had their first two children, Mikka and Harlow, her anxiety began to grow. She was tortured by the fact that her cousin Erin had passed away just seven months after diagnosis. Heide wondered whether cancer was already forming inside her.

"No one would love [my daughters]like me. So every, like, Christmas or birthday, or any type of holiday, I would always go above take lots of pictures, make it perfect in case it was their last one with me," she said.

Heide still resisted the idea of getting an invasive surgery to remove her stomach.She was worried about long-lasting side effects, including diarrhea, vomitingand fatigue.

She'd also had one of her veins cut during a routine endoscopy a diagnostic test to look for cancer and began to vomit blood and lose consciousness.

"I was mentally making peace with myself and God that maybe my time had come. That shakes a person deeply," she said.

From that point on, she had adeepfear of medical procedures. She would schedulea gastrectomy, then cancel.

Then, in 2014, her younger sister, Ali Kowaluk, decided to get genetic testing.

Kowaluk admits she had procrastinated. Then shegot married and began to contemplate having children. She knew it was time to visit a genetic counsellor at the Royal University Hospital in Saskatoon.

She tested positive for the gene mutation and knew immediately that she would have the surgery.

Kowaluk had her entire stomach removed at the age of 23. Afterward, the surgeon told her that tests on tissues removed from her revealed Stage1cancer.

"So that was hard to hear, still hard to talk about. I don't talk about that part very much," Kowaluk said, choking up.

Undetected, the aggressive cancer would have certainly gone on to kill her. The surgery saved her life.

"I could not be here today," Kowaluk said.

Now a mother of one-year-old Winston, Kowaluk is shaken by how closeshe came to passing awaylike her cousin Erin.

Kowaluk's near-death experience was awake-up call for her big sister, Heide.

One night, after both of her daughters fell asleep during their bedtime story, one curled up under each arm, Heidelay there praying to God and silently sobbing. The next morning, she woke up with mental clarity. It was time to have the surgery.

"Knowing you carry a gene with such devastating potential is a heavy weight to carry. It was heavier than I could mentally handle any longer," she said.

Heide got her stomach removed at Calgary Foothills Hospital in 2015.

The recovery took nearly a yearand was excruciating, she said. She could barely get off the couch some days.

Two years after the surgery, despite not knowing if it was possible, she got pregnant and had a third child,a boy named Huxley. It seemed to reset her body, she said.

Today, Heide stands in her kitchen, sunshine pouring through the window, snacking on tiny bites of chicken and cottage cheese.

The 5-foot-5,105-poundwomaneats every couple of hours and only small amounts, because she doesn't have a stomach to digest and store food.She has to chew everything until it's mush, and eating and drinking fluid at the same time pushesfood into her small intestine too quickly and makes her sick.

Heide has reached a level of peace and confidence with her health that she hasn't had in years.

"Of course, I wish we didn't have this gene, but it's also a gift that we know about it, because I might not be sitting here today if I didn't know about it," she said.

Unfortunately, her worries aren't over.

"The worry about myself has now been put onto my kids, because I just worry and hope that none of them have the gene," Heide said,

Each of her three children, and Kowaluk's son, has a 50 per cent chance of inheriting the gene mutation. They can get tested when they're 18.

The two women hope that, by then, medical advancements will provide better options for testing, treatingand preventing the disease.

"I have high hopes for him," Kowaluk saidof her son, Winston.

Heide shares the same optimism.

"It's hard, but it is what it is. We're lucky that we get a chance at life."

Visit link:
Sask. woman who got stomach removed to thwart cancer describes life with 'ticking time bomb' - CBC.ca

Recommendation and review posted by Bethany Smith

ATLANTA, Dec. 16, 2020 /PRNewswire/ -- Elite Testing and Wellness at the Chastain Surgery Center is excited to announce the launch of innovative genetic testing and IV drip therapy services in the Atlanta market. The DNA tests are the future of health optimization and include a DNA fitness test, micronutrient test, pharmacogenomics test, and a food sensitivity test. Alongside the launch of genomic testing products, Elite is launching a full suite of IV therapy products. The IV Drips available at Elite will include a Beauty Drip, Immunity Drip, Hangover Drip, All-In-One Drip, Meyer's Cocktail Drip, and a Pre & Post Surgery Drip. Elite will also offer Custom IV Drips based on your micronutrient analysis to address vitamin and mineral deficiencies.

"We are excited about the launch of all the new products and services at Elite," says Managing Director of Elite Testing and Wellness, Courtney Rodriguez. "We started this business earlier in 2020 to help address the need for reliable, fast COVID-19 testing. As more providers have entered the area, we are transitioning the company to focus on the next generation of health optimization. We believe these new products and services are going to allow the people of Atlanta to take control of their health with some of the most innovative technology and approaches used around the world."

Elite Testing and Wellness is a new DNA testing center & IV Drip Therapy lounge in Atlanta. The DNA testing products and IV Therapy services work together to create a holistic approach to the future of health. With DNA testing, Elite helps patients gain access to important genetic data analysis on the impact of fitness, diet, pharmaceuticals, and more on their health. Elite works with patients to develop a fitness plan, diet plan, and IV therapy plan for optimal health & performance based on the patient's genetics.

Dr. Alan N. Larsen, Medical Director of Elite Testing and Wellness, had this to say, "We are proud to add Elite Testing & Wellness to the Alan N. Larsen Family of Brands alongside Buckhead Plastic Surgery, LUX Med Spa, and Chastain Surgery Center. The launch of these innovative products & services gives Atlanta a luxurious location for the future of health optimization."

To learn more about DNA Testing & IV Therapy, contact Elite Testing and Wellness at 404.689.6860

SOURCE Elite Testing and Wellness

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Elite Testing and Wellness Launches Innovative DNA Testing and IV Therapy in the Atlanta Market - PRNewswire

Recommendation and review posted by Bethany Smith

OKLAHOMA CITY (KFOR) Behind one Oklahoma 8-year-olds infectious smile is a fighter.

Im smaller than most people, said Madison Cain.

Madison was born smaller than most babies, too, at 5 lbs. 9 oz.

She was teeny tiny, she calls herself a little itty-bitty baby,said Madisons mom, Melissa Cain.

For Madisons first year, Melissa says there werent many issues.

Around 15 months or so she quit growing in length, she quit gaining weight, and so that began our journey to figure out what was going on, said Melissa.

The Tulsa residents had no idea what this journey would entail.

By age two, Madison was diagnosed with hip dysplasia and cataracts.

She got those initial diagnoses treated, but still wasnt growing.

Then we really started thinking this isnt all adding up she doesnt grow, she has the hip thing, she has cataracts, there has to be something, said Melissa.

The family started genetic testing, while Madisons symptoms persisted.

Still low energy not growing well, said Melissa. She couldnt keep up with her peers, you know running and things werent the same we were doing all kinds of things and just not a lot of answers.

The Cains spent hours researching, and even more time at the doctors office, but it was years of dead ends.

No energy, sleeping 16 hours a day barely making it through school, not gaining any weight, said Melissa.She was 5 and weighed about 25-28 pounds, but she is the most easy going, not stressed out, tough child.

Madisons strength paid off.

A break-through finally coming in 2019.

The genetics doctor called and said here this is what it is, theres one published paper, with a patient with this. Its not her, so well just put it in a database and see if anything ever hits, said Melissa.

But as a nurse practitioner herself, Melissa sat down and read the article.

She realized it was written by doctors, just down the turnpike, at the Oklahoma Medical Research Foundation.

This is a new disease and were the first ones that discovered it, said Dr. Lijun Xia,Member and Chair, Cardiovascular Biology Research Program at OMRF.

Madison has rare gene mutation to the MBTPS1 gene.

Madison, inherited a wrong copy from her mother and the father so, therefore even though she has two copies of the gene both are wrong both have mutation, said Dr. Xia.

The mutation, resulted in a condition called Spondyloepiphyseal Dysplasia, Kondo-Fu type, or SEDKF for short.

The condition named after two of Oklahomas scientists.

The disorder hinders Madisons bone growth and development.

This is a very rare genetic disease,said Dr. Xia.

There are only two known cases in the state, Madisons and another girl named Sydney in Yukon, who was the first diagnosed.

Since publishing the article, OMRF now knows of about eight cases worldwide.

We have one contact us from Germany, one from Brazil, and theres also one from San Francisco, said Dr. Xia.

Doctors think that could be because many patients are misdiagnosed.

The mutation can also affect every patient differently.

However, theres hope on the horizon.

Researchers have come up with a possible treatment but need 50 patients for a clinical trial.

Now theyre searching for cases across the country.

Of course, I wish that we had the answer plus enough patients to do a trial and see if the treatment would work and Im hopeful that we can get there before her bones stop growing, said Cain.

The protein used for treatment has already been approved by the FDA to treat a different disease.

Researchers have tested the treatment on mice successfully.

For Madison, this treatment could mean everything.

It could change our life and change her life for the rest of her life, said Cain. We never thought weve get a Madison, but theres no one like Madison.

For more information visit the OMRF website.

Read this article:
Oklahoma researchers looking for additional patients across the US with rare genetic mutation - KFOR Oklahoma City

Recommendation and review posted by Bethany Smith

Genetics is a booming field for the next decade. One of the most obvious applications is genetic testing. In this field, I value the network approach used by Invitae (NVTA). The company intends to create a platform that brings together patients, clinicians, and payers, in a continuous service that can be accessed and updated anytime during the patient's life.

I've been shifting my attention to the genomic revolution. The reason is simple, and I've explained it in depth elsewhere. In a nutshell, the valuations are sky-high for most stay-at-home stocks, but the genomic space has been underfollowed and undercovered due to its complexity. Here, I intend to break down the main components of a genomic play and convey it in a digestible form. One previous example of that is my CRISPR analysis.

(Photo Credit: Eelke)

Basically, I see the structure of the industry as an ecosystem composed of three main parts. The first is testing tools like the ones provided by Illumina (ILMN). I've written about this company and how it has allowed a dramatic drop in sequencing costs. However, I've been reviewing my assessment, and I now think the Pacific Biosciences (PACB) might be well-positioned to be successful in the space. Be as it may, that will be a discussion for another time. The second is the test and diagnostic services. Companies that buy the testing tools and develop services around them. The third is companies that develop therapies around gene-related diseases. That's a simple formulation, but one that I believe provides a good enough framing.

The costs are falling for the companies in the industry. The cost of sequencing a human genome has been falling faster than Moore's law.

(Source: genome.gov)

That's huge because the costs were prohibitive for products and services based on genetic information to become massified. Now that companies are targeting the $100 per genome mark, we might watch the proliferation of services and products in that space. Additionally, these cost decreases should allow more companies to pursue genetic-related services and products outside of healthcare. Sectors like agriculture, aquaculture, health insurance, materials, chemicals, energy, and electronics are likely to take advantage of lower sequencing costs to create new avenues for R&D.

For Invitae, there will be two order effects. The first is the growing demand for tests and services in healthcare. The applications for genetic data are growing at a fast pace, and companies providing the data will have huge demand. The second is the growing demand coming from other unexpected sectors.

In this field, companies are offering flexible laboratory-developed tests, and direct-to-consumer solutions, like the ones provided by Sema4, Myriad Genetics, 23andMe, or Genomic Health. Invitae is trying to establish an integrated network to be accessed by physicians during an individual's life. Like all the networks, its value increases with each new user. In this case, the network is complex because it is an ecosystem composed of patients, doctors, and insurance companies (payers). That makes it likely to be a case where the winner takes most and helps explain why the company is looking to scale fast.

However, developing and maintaining a network is not easy or cheap. For instance, the cost of accumulating data is high. Unlike social media that harvests inexpensive user data, Invitae harvests expensive user data. Yes, they have access to a huge pool of datasets, but they also have to sequence it, and that's expensive. However, new technology in the industry can change that. The emergence of Pacific Biosciences' HiFi sequencing technology might open a new avenue to a sustainable cost-reduction period in the industry. Invitae has already started to explore this route.

Additionally, Invitae needs to dilute the costs of laboratory infrastructure over a larger number of tests. To do so, the company will need to have a big gene library, and they'll need to perform advanced research on the gene data. That will widen the test menu, which will help to attract more customers, and, in turn, drive costs lower, reinforcing the cycle.

The interpretation of results is another aspect to consider to reduce costs. You might get your DNA sequenced, but you would still need to understand which gene does what. These are very complex processes that require a lot of work. Currently, AI offers immense help in that process since it allows for the processing of enormous loads of data. That, I believe, is the secret sauce. Having more samples means having more data. With a powerful AI processing capacity, the company can expand its knowledge base and increase its testing menu. To provide some color, Invitae started with 200 genes in its first commercial offering, and it grew to more than 200,000 genes.

Next comes Invitaes most used corporate strategy: focused acquisitions. The company has been acquiring companies that have the tech to build the testing network or buying companies that will allow them to drive down the costs. One example is rare disease diagnostics. Diagnosing rare diseases is like searching for a needle in a haystack. However, AI can lower the time and cost to do it. Diploid's acquisition earlier in 2020 is a step in that direction. The company has an AI software called Moon that combines AI algorithms, a gene-disorder model, and a continuously growing genetic database to provide a diagnosis in minutes.

Other acquisitions include Genelex and YouScript, both providing pharmacogenetic information at point-of-care. That will help healthcare organizations to evaluate how an individual will react to a certain drug prescription based on their genetic information. More impactfully, by acquiring Archer DX, Invitae integrates germline testing, tumor profiling, and liquid biopsy capabilities in its platform.

Summing up, the company is developing a network approach instead of a direct-to-consumer used by many competitors. The company has focused on driving costs lower by using the most cost-effective technology available. The adoption of PacBio's HiFi technology seems like a step in that direction.

Driving the costs lower has allowed the company to be aggressive in pricing, and it has helped in growing the test volume. Finally, the various acquisitions have brought software, AI skills, and new testing capabilities to the platform, which will help to widen the offerings.

(Source: Invitae)

The company's revenues have been growing at an impressive pace. Revenues expanded by 47% in 2019, and it reflects the aggressive approach to generate volume growth. The company is on an evident scaling-up period, and the gross margins are also accompanying the trend. The gross margin has improved from being negative in 2015 to a stable 45% in 2018 and 2019. However, scaling-up also means higher R&D and SG&A expenses.

(Source: Authors computations based on SEC filings)

I see the scaling-up as an opportunity. Firstly, it is likely that the company will miss on earnings, and that might throw the stock down temporarily. Secondly, the company is scaling because it knows that there is a market for its product.

The improvement in the bottom line is dependent on two main fronts. First, reaching out to new markets, which will result in revenue growth and the dilution of SG&A expenses. Second, the improvement in the gross margin, i.e., becoming more efficient.

On the COGS front, the company's double approach, i.e., exploring alternatives to Illumina's technology and stimulating economies of scale, has allowed a decrease in the cost per sample from $264 in 2018 to $245 in 2019. The development (or acquisition) of AI capabilities will also help reduce labor costs, and medical interpretation of the results will bring further declines.

In my opinion, the biggest quest to improve the bottom line is on the payers' side of the network. Physicians will hardly prescribe an expensive test to a patient if they can't get a reimbursement. Reimbursement is dependent on several factors, and it is up to the payer to determine if a test is appropriate. Additionally, payers also define who they contract in case they need a test. Therefore, getting coverage and a contract from payers becomes essential to grow the business. Invitae currently has contracts with payers amassing a total of 295 million lives. That's reflected in the 60% growth in billable tests in 2019.

Some studies suggest that the global market for pediatric rare disease diagnostics will be worth more than $27 billion in 2024. That's a very tangible market to target, and one where clinicians, third-party payers, and parents are very much aligned in the awareness that there must be a better way than years of trial-and-error before clinicians reach a final diagnostic.

That might very well be the breakthrough for Invitae, but there are lots of other avenues to take, other being non-invasive natal screening. Nevertheless, a tremendous increase in revenue will be necessary to make the company profitable. Two main factors might help the company in its pursuit. First, the next generation of sequencing technology, like PacBio's HiFi, will likely help to sustain the drop in costs that the industry has been experiencing. Second, reduced costs will be a driver for new demand for genetic tests. More tests mean more data for Invitae to apply its AI and add more genetic content to its test menu. That will be another driver for demand.

I like to end the pieces on genetic companies with a word of caution. These are very risky enterprises, do not doubt it. In this case, I could write a piece only focused on the risks.

First, there might be one or more competitors that might have better technology or market offering. Genomics is a very dynamic field, and with costs dropping, the barriers to new entrants also drop. That's the recipe for innovation and competition. One thing that worries me is a new entrant completely disrupting the network model followed by Invitae. Nevertheless, the threat might also come from an established big pharmaceutical player, heavy on resources.

Second, the ability to gather support from third-party payers is crucial to keep the company growing and expanding its edge. Also, the ability to convince physicians to prescribe the tests and the competence to navigate the payers' requirements to get the reimbursements.

Given the serial-acquirer profile that Invitae has developed, integrating all the acquisitions seamlessly becomes essential. If they fail to accomplish it, that will result in costly write-offs and investor scares, which might push the company out of the capital markets.

Finally, currently, the balance sheet is solid. However, the company might need cash to finance an acquisition (or to cover the cash burn), meaning that there is a good chance of a significant issuance of stock in the coming years.

That said, there are more than enough unmet needs in the marketplace for the company to build a $2 to $3 billion sustainable revenue stream during the next couple of years. If the current decrease in costs holds, the company will likely turn profitable. If that scenario materializes, the current market capitalization could easily double.

Disclosure: I am/we are long PACB, NVTA, CRSP. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

Additional disclosure: This text expresses the views of the author as of the date indicated and such views are subject to change without notice. The author has no duty or obligation to update the information contained herein. Further, wherever there is the potential for profit there is also the possibility of loss. Additionally, the present article is being made available for educational purposes only and should not be used for any other purpose. The information contained herein does not constitute and should not be construed as an offering of advisory services or an offer to sell or solicitation to buy any securities or related financial instruments in any jurisdiction. Some information and data contained herein concerning economic trends and performance is based on or derived from information provided by independent third-party sources. The author trusts that the sources from which such information has been obtained are reliable; however, it cannot guarantee the accuracy of such information and has not independently verified the accuracy or completeness of such information or the assumptions on which such information is based.

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Invitae: Network Strategy And Industry Tailwinds Should Offer Path To Profitability - Seeking Alpha

Recommendation and review posted by Bethany Smith

After seeing inadequate mental healthcare profoundly affect family and friends, Maurice Chiang, MS 20 was determined to find a better way. Guided by the Stanford Byers Center for Biodesigns need-based approach to innovation, Chiang worked with a team of fellow Stanford graduates to build a new model for mental healthcare delivery.

The Prairie Health co-founders: Top L: Benson Kung, Top R: Maurice Chiang, Bottom L: Aaron Kappe, Bottom R: Jin Woo Yu. (Image credit: Courtesy Prairie Health)

Chiang, along with Benson Kung, BS 20, Aaron Kappe, MBA 20, and Jin Woo Yu, BS 20, developed a system that uses data to inform treatment decisions, telemedicine to improve patient access and care continuity, and a direct-to-consumer approach to bypass traditionally poor mental health insurance coverage and misaligned care incentives. Their goal: drive better outcomes for patients at a significantly reduced cost.

Chiang, who earned his undergraduate degree in bioengineering before completing a masters in computer science, used the biodesign process to understand problems in mental healthcare before conceptualizing a solution. He first learned this systematic approach to health technology innovation as a student in Bioengineering Senior Capstone Design.

The Capstone course prepares engineering students for the real world by asking them to identify an important problem, understand it from the perspectives of all involved and then develop a novel, technology-based solution, said course co-leader Ross Venook, PhD, a bioengineering lecturer and the assistant director of engineering at Stanford Biodesign.

In the course, Maurice and his team had worked on a project to reduce opioid dependency, so when he brought up mental health in a subsequent meeting, I was surprised. My surprise turned to curiosity and then excitement as Maurice described the unmet clinical need he was pursuing and the way he was applying the biodesign tools we used in class to this project, said Venook, who became an informal advisor to the team.

Chiang started by interviewing hundreds of patients, providers, payers and others. I wanted to thoroughly understand the ecosystem so I could find a way to improve care for patients while also delivering value to the other stakeholders, Chiang said.

Based on his research, one of the first problems Chiang set out to address was the way antidepressants are prescribed to mental health patients. There is significant variability in the way people respond to these medications, he said. Psychiatrists approach this largely by trial and error, meaning they try something, wait to see how it works and then try something else. As a result, patients can spend months struggling with ineffective medications and/or adverse side effects.

This is the same approach that has been used since the 1980s, Chiang said. I wanted to use data to advance patient care and prescribing practices. He explained that while its not yet possible to use a patients genetic information to create a personalized medical regimen, there are ways to use genetic testing to better understand how a patient will metabolize drugs.

The key to this is the six enzymes (proteins) that are largely responsible for breaking down drugs in the body. These enzymes arent identical in everyone; in fact, most people have variations of one or more of them that affect the way their bodies process medications. Because differences in certain genes correspond to the differences in the enzymes, genetic testing can identify the variants and help predict individual medication response.

For example, if a person has a variation that causes them to metabolize an antidepressant more slowly than average, the antidepressant will stay in their system longer, increasing the likelihood that it will cause side effects like nausea and fatigue, said Chiang. If the physician is aware of this, they can modify that patients prescription proactively.

Working with teammate Kung, Chiang also sought to leverage data to help providers understand how patients similar to theirs had responded in the past. The National Health Service in the UK has one of the worlds largest psychiatric clinical datasets, said Chiang. We use longitudinal data drawn from years of patient health records and other variables to paint a picture of patient outcomes on certain medications over time. This information, along with the genetic tests, helps drive more informed treatment decisions that give patients a better chance of receiving a medication that works for them the first time, resulting in fewer adverse side effects, lower costs and faster recoveries.

Another problem Chiang set out to address was access. It typically takes three to four weeks to get a first appointment to see a provider, and follow-up visits can be six to 12 weeks apart, he said. To shorten that timeline, the team began experimenting with telemedicine. With virtual visits, we can connect a patient to a provider within a day, said Chiang.

To improve care continuity, a care manager is assigned to check in with the patient regularly. Theres a lot to be gained from a non-therapist support person, said Ronald Albucher, MD, the former director of Counseling and Psychological Services at Stanfords Vaden Student Health Center, who serves as an advisor to the team. Improved support is associated with a reduction in symptoms, especially when someone is going through a crisis or a new onset mental health problem.

The team also tackled the high cost of treatment. Insurance coverage for mental healthcare is frequently inadequate, said Albucher. Patients are required to choose from a small number of in-network providers, only to find out that most arent taking new patients or are retired. It makes it hard to find a provider who is a good match. And then there is often a cap on the number of visits.

To eliminate these problems, the team decided to use a direct-to-consumer business model. This approach, in combination with virtual visits, strips out billers, payers, offices and most administrative costs, and makes it possible to deliver comprehensive mental healthcare that includes genetic testing and medications for a flat fee of $99 per month.

The business model is largely the brainchild of Kappe, who got interested in entrepreneurship while a student in the graduate-level Biodesign Innovation course. Kappe said it was the most impactful course he took at the Stanford Graduate School of Business. The course demystified the process of starting a company by breaking it down into components from understanding the need youre trying to solve, to how different stakeholders interact, how to think through regulatory paths and options and how to develop a go-to-market plan that makes the business sustainable, Kappe said.

The company they formed is called Prairie Health. Kappe leads its business strategy and growth. Chiang is the CEO, Kung heads research and development, and Yu heads product and engineering. All four are co-founders, and share interwoven connections to Stanford Engineering, Stanford Biodesign, the Stanford Ventures Technology Program and ASES, a global student entrepreneurship program.

Its a very interesting model that hasnt been tried before, said Albucher. They are doing an impressive job of trying to address important deficiencies in mental healthcare.

Chiang said he and his team members are trying to walk the walk when it comes to providing value-based care. A patient with anxiety and depression incurs an average of $5,000 to $8,000 more in medical claims per year, Chiang said. If were able to improve patient outcomes three times faster, thats better for the patient and a significant cost savings.

Link:
Reimagining mental healthcare from the ground up - Stanford Today - Stanford University News

Recommendation and review posted by Bethany Smith

Diagnostics are a critical part of precision medicine. They can be used to screen patients for breakthrough therapies, detect certain conditions, especially cancer, earlier. But this area of medical innovation is balanced between promising new developments in molecular diagnostics, genetic testing and liquid biopsies, the delivery of these tests, and the all important question of who pays for it.

More than 80% of representatives of health systems have established genomic data management strategies or plan to do so within the next couple of years, according to a report by University of Pittsburgh Medical Centers Center for Connected Medicine and HIMSS Media, which surveyed 101 health system and hospital representatives in the U.S. The report indicated that health systems anticipate growth and increased use of genomics. Evidence of clinical and cost effectiveness and reimbursement are crucial for wider adoption of precision medicine programs.

Although the development and distribution of tests to diagnose COVID-19 has dominated much of the news this year, there has also been much activity in the way of development of molecular diagnostic tests and liquid biopsies.

Advanced diagnostic tests can stratify patients for response, non-response, and adverse events to costly therapies and interventions that do not yield improvement or positive outcome for patients.

In this eBook, we offer a look at some of the promising diagnostic developments and trends in this area, tempered by the need to make financing considerations an essential part of the conversation.

Please fill out the form below to download the eBook, The Diagnostics Chapter of Precision Medicine.

Photo: Natali_Mis, Getty Images

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A look at the diagnostics chapter of precision medicine - MedCity News

Recommendation and review posted by Bethany Smith

We all have 46 chromosomes: 23 of them are inherited from our father and 23 are from our mother. The genetic information for our entire body is stored within these chromosomes. Two of the 46 are sex chromosomes and determine whether we are male (XY) or female (XX). Therefore, the Y chromosome contains all the necessary information for differentiating males from females as well as for sperm production.

The study of Y chromosome microdeletions consists of checking if chromosome Y is complete and, as such, has all the necessary information for satisfactory sperm production or if, on the contrary, small fragments are missing. The loss of such fragments leads to altered spermiogramme which can mean poor sperm production (oligozoospermia) or even no production at all (azoospermia).

For all those patients with an altered seminogram sperm count, this test is of utmost importance since it will provide information on if the low sperm count is down to genetics and, therefore, may be passed on to male children.

The techniques used in laboratories the world over involve molecular biology techniques which only check a small number of Y chromosome regions.

As a part of our commitment to provide our patients with the very latest in innovative technology and deliver top results, we have recently introduced a new technique (MLPA, multiplex ligation-dependent probe amplification) which enables a greater number of Y chromosome regions to be studied. This means that we are able to diagnose more cases since we can detect the presence or absence of a greater number of Y chromosome regions. As such, more patients will get information on the cause of their sperm production issue. It will also enable the specific region of the Y chromosome which has been lost to be identified and, therefore, depending on which region it is, disclose whether a total loss of sperm production may occur in the future. If the patient is currently producing sperm, this will open up the possibility of freezing before production comes to a complete standstill, thus allowing for biological descendants in the future.

We must not forget that Y chromosome microdeletions mean a loss of genetic material. And that in such cases the fertility issue will be passed on to future male generations. Appropriate reproduction and genetics counselling is, therefore, a must. Instituto Bernabeu has a unit which is specialised in genetics and reproduction counselling where each case is evaluated on an individual basis and the patient is given appropriate advice.

Dr. Beln Lled, IBBIOTECH scientific Director of Instituto Bernabeu.

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Y chromosome microdeletion: Male sterility and genetic ...

Recommendation and review posted by Bethany Smith

Type of genetic haplogroup

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). Many people within a haplogroup share similar numbers of short tandem repeats (STRs) and types of mutations called single-nucleotide polymorphisms (SNPs).[1]

The human Y-chromosome accumulates roughly two mutations per generation.[2] Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree that share hundreds or even thousands of mutations unique to each haplogroup.

The Y-chromosomal most recent common ancestor (Y-MRCA, informally known as Y-chromosomal Adam) is the most recent common ancestor (MRCA) from whom all currently living humans are descended patrilineally. Y-chromosomal Adam is estimated to have lived roughly 236,000 years ago in Africa. By examining other bottlenecks most Eurasian men (men from populations outside of Africa) are descended from a man who lived 69,000 years ago. Other major bottlenecks occurred about 50,000 and 5,000 years ago and subsequently the ancestry of most Eurasian/non-African men can be traced back to four ancestors who lived 50,000 years ago.[3][4][5][clarification needed]

Y-DNA haplogroups are defined by the presence of a series of Y-DNA SNP markers. Subclades are defined by a terminal SNP, the SNP furthest down in the Y-chromosome phylogenetic tree.[6][7] The Y Chromosome Consortium (YCC) developed a system of naming major Y-DNA haplogroups with the capital letters A through T, with further subclades named using numbers and lower case letters (YCC longhand nomenclature). YCC shorthand nomenclature names Y-DNA haplogroups and their subclades with the first letter of the major Y-DNA haplogroup followed by a dash and the name of the defining terminal SNP.[8]

Y-DNA haplogroup nomenclature is changing over time to accommodate the increasing number of SNPs being discovered and tested, and the resulting expansion of the Y-chromosome phylogenetic tree. This change in nomenclature has resulted in inconsistent nomenclature being used in different sources.[1] This inconsistency, and increasingly cumbersome longhand nomenclature, has prompted a move towards using the simpler shorthand nomenclature. In September 2012, Family Tree DNA provided the following explanation of its changing Y-DNA haplogroup nomenclature to individual customers on their Y-DNA results pages (note that the haplogroup mentioned below relates to a specific individual):[9]

Long time customers of Family Tree DNA have seen the YCC-tree of Homo Sapiens evolve over the past several years as new SNPs have been discovered. Sometimes these new SNPs cause a substantial change in the "longhand" explanation of your terminal Haplogroup. Because of this confusion, we introduced a shorthand version a few years ago that lists the branch of the tree and your terminal SNP, i.e. J-L147, in lieu of J1c3d. Therefore, in the very near term, Family Tree DNA will discontinue showing the current "longhand" on the tree and we will focus all of our discussions around your terminal defining SNP.This changes no science it just provides an easier and less confusing way for us all to communicate.

Haplogroup A is the NRY (non-recombining Y) macrohaplogroup from which all modern paternal haplogroups descend. It is sparsely distributed in Africa, being concentrated among Khoisan populations in the southwest and Nilotic populations toward the northeast in the Nile Valley. BT is a subclade of haplogroup A, more precisely of the A1b clade (A2-T in Cruciani et al. 2011), as follows:

The defining mutations separating CT (all haplogroups except for A and B) are M168 and M294. The site of origin is likely in Africa. Its age has been estimated at approximately 88,000 years old,[11][12] and more recently at around 100,000[13] or 101,000 years old.[14]

The groups descending from haplogroup F are found in some 90% of the world's population, but almost exclusively outside of sub-Saharan Africa.

FxG,H,I,J,K is rare in modern populations and peaks in South Asia, especially Sri Lanka.[10] It also appears to have long been present in South East Asia; it has been reported at rates of 45% in Sulawesi and Lembata. One study, which did not comprehensively screen for other subclades of F-M89 (including some subclades of GHIJK), found that Indonesian men with the SNP P14/PF2704 (which is equivalent to M89), comprise 1.8% of men in West Timor, 1.5% of Flores 5.4% of Lembata 2.3% of Sulawesi and 0.2% in Sumatra.[15][16] F* (FxF1,F2,F3) has been reported among 10% of males in Sri Lanka and South India, 5% in Pakistan, as well as lower levels among the Tamang people (Nepal), and in Iran. F1 (P91), F2 (M427) and F3 (M481; previously F5) are all highly rare and virtually exclusive to regions/ethnic minorities in Sri Lanka, India, Nepal, South China, Thailand, Burma, and Vietnam. In such cases, however, the possibility of misidentification is considered to be relatively high and some may belong to misidentified subclades of Haplogroup GHIJK.[17]

Haplogroup G (M201) originated some 48,000 years ago and its most recent common ancestor likely lived 26,000 years ago in the Middle East. It spread to Europe with the Neolithic Revolution.

It is found in many ethnic groups in Eurasia; most common in the Caucasus, Iran, Anatolia and the Levant. Found in almost all European countries, but most common in Gagauzia, southeastern Romania, Greece, Italy, Spain, Portugal, Tyrol, and Bohemia with highest concentrations on some Mediterranean islands; uncommon in Northern Europe.[18][19]

G-M201 is also found in small numbers in northwestern China and India, Bangladesh, Pakistan, Sri Lanka, Malaysia, and North Africa.

Haplogroup H (M69) probably emerged in South Central Asia or South Asia, about 48,000 years BP, and remains largely prevalent there in the forms of H1 (M69) and H3 (Z5857). Its sub-clades are also found in lower frequencies in Iran, Central Asia, across the middle-east, and the Arabian peninsula.

However, H2 (P96) is present in Europe since the Neolithic and H1a1 (M82) spread westward in the Medieval era with the migration of the Roma people.

Haplogroup I (M170, M258) is found mainly in Europe and the Caucasus.

Haplogroup J (M304, S6, S34, S35) is found mainly in the Middle East and South-East Europe.

Haplogroup K (M9) is spread all over Eurasia, Oceania and among Native Americans.

K(xLT,K2a,K2b) that is, K*, K2c, K2d or K2e is found mainly in Melanesia, Aboriginal Australians, India, Polynesia and Island South East Asia.

Haplogroup L (M20) is found in South Asia, Central Asia, South-West Asia, and the Mediterranean.

Haplogroup T (M184, M70, M193, M272) is found at high levels in the Horn of Africa (mainly Cushitic-speaking peoples), parts of South Asia, the Middle East, and the Mediterranean. T-M184 is also found in significant minorities of Sciaccensi, Stilfser, Egyptians, Omanis, Sephardi Jews,[20] Ibizans (Eivissencs), and Toubou. It is also found at low frequencies in other parts of the Mediterranean and South Asia.

The only living males reported to carry the basal paragroup K2* are indigenous Australians. Major studies published in 2014 and 2015 suggest that up to 27% of Aboriginal Australian males carry K2*, while others carry a subclade of K2.

Haplogroup N (M231) is found through northern Eurasia, especially among speakers of the Uralic languages.

Haplogroup N possibly originated in eastern Asia and spread both northward and westward into Siberia, being the most common group found in some Uralic-speaking peoples.

Haplogroup O (M175) is found with its highest frequency in East Asia and Southeast Asia, with lower frequencies in the South Pacific, Central Asia, South Asia, and islands in the Indian Ocean (e.g. Madagascar, the Comoros).

No examples of the basal paragroup K2b1* have been identified. Males carrying subclades of K2b1 are found primarily among Papuan peoples, Micronesian peoples, indigenous Australians, and Polynesians.

Its primary subclades are two major haplogroups:

Haplogroup P (P295) has two primary branches: P1 (P-M45) and the extremely rare P2 (P-B253).[21]

P*, P1* and P2 are found together only on the island of Luzon, in The Philippines.[21] In particular, P* and P1* are found at significant rates among members of the Aeta (or Agta) people of Luzon.[22] While, P1* is now more common among living individuals in Eastern Siberia and Central Asia, it is also found at low levels in mainland South East Asia and South Asia. Considered together, these distributions tend to suggest that P* emerged from K2b in South East Asia.[22][23]

P1 is also the parent node of two primary clades:

Haplogroup Q (MEH2, M242, P36) found in Siberia and the AmericasHaplogroup R (M207, M306): found in Europe, West Asia, Central Asia, and South Asia

Q is defined by the SNP M242. It is believed to have arisen in Central Asia approximately 32,000 years ago.[24][25] The subclades of Haplogroup Q with their defining mutation(s), according to the 2008 ISOGG tree[26] are provided below. ss4 bp, rs41352448, is not represented in the ISOGG 2008 tree because it is a value for an STR. This low frequency value has been found as a novel Q lineage (Q5) in Indian populations[27]

The 2008 ISOGG tree

Haplogroup R is defined by the SNP M207. The bulk of Haplogroup R is represented in descendant subclade R1 (M173), which likely originated on the Eurasian Steppes. R1 has two descendant subclades: R1a and R1b.

R1a is associated with the proto-Indo-Iranian and Balto-Slavic peoples, and is now found primarily in Central Asia, South Asia, and Eastern Europe.

Haplogroup R1b is the dominant haplogroup of Western Europe and also found sparsely distributed among various peoples of Asia and Africa. Its subclade R1b1a2 (M269) is the haplogroup that is most commonly found among modern Western European populations, and has been associated with the Italo-Celtic and Germanic peoples.

More:
Human Y-chromosome DNA haplogroup - Wikipedia

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Uncommon congenital variations of sex-associated characteristics

Intersex people are individuals born with any of several variations in sex characteristics including chromosomes, gonads, sex hormones or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies".[1][2] This range of atypical variation may be physically obvious from birth babies may have ambiguous reproductive organs, or at the other extreme range it is not obvious and may remain unknown to people all their lives.[3]

Intersex people were previously referred to as hermaphrodites or "congenital eunuchs".[4][5] In the 19th and 20th centuries, some medical experts devised new nomenclature in an attempt to classify the characteristics that they had observed. It was the first attempt at creating a taxonomic classification system of intersex conditions. Intersex people were categorized as either having true hermaphroditism, female pseudohermaphroditism, or male pseudohermaphroditism.[6] These terms are no longer used: terms including the word "hermaphrodite" are considered to be misleading, stigmatizing, and scientifically specious in reference to humans.[7] A hermaphrodite is now defined as "an animal or plant having both male and female reproductive organs".[6] In 1917, Richard Goldschmidt created the term intersexuality to refer to a variety of physical sex ambiguities.[6] In clinical settings, the term "disorders of sex development" (DSD) has been used since 2006.[8] This shift has been controversial since the label was introduced.[9][10][11]

Intersex people face stigmatization and discrimination from birth, or from discovery of an intersex trait, such as from puberty. This may include infanticide, abandonment, and the stigmatization of families.[12][13][14] Globally, some intersex infants and children, such as those with ambiguous outer genitalia, are surgically or hormonally altered to create more socially acceptable sex characteristics. However, this is considered controversial, with no firm evidence of favorable outcomes.[15] Such treatments may involve sterilization. Adults, including elite female athletes, have also been subjects of such treatment.[16][17] Increasingly, these issues are considered human rights abuses, with statements from international[18][19] and national human rights and ethics institutions (see intersex human rights).[20][21] Intersex organizations have also issued statements about human rights violations, including the 2013 Malta declaration of the third International Intersex Forum.[22]

Sex assignment at birth usually aligns with a child's anatomical sex and phenotype. The number of births where the baby is intersex has been reported to be roughly 1.7%, depending on which conditions are counted as intersex.[23][24] The number of births with ambiguous genitals is in the range of 0.02% to 0.05%.[25] Other intersex conditions involve atypical chromosomes, gonads, or hormones.[26] Some intersex persons may be assigned and raised as a girl or boy but then identify with another gender later in life, while most continue to identify with their assigned sex.[27][28] In 2011, Christiane Vlling became the first intersex person known to have successfully sued for damages in a case brought for non-consensual surgical intervention.[29] In April 2015, Malta became the first country to outlaw non-consensual medical interventions to modify sex anatomy, including that of intersex people.[30][31]

According to the UN Office of the High Commissioner for Human Rights:

Intersex people are born with sex characteristics (including genitals, gonads and chromosome patterns) that do not fit typical binary notions of male or female bodies.Intersex is an umbrella term used to describe a wide range of natural bodily variations. In some cases, intersex traits are visible at birth while in others, they are not apparent until puberty. Some chromosomal intersex variations may not be physically apparent at all.[2]

According to World Health Organization:Intersex is defined as a congenital anomaly of the reproductive and sexual system. An estimate about the birth prevalence of intersex is difficult to make because there are no concrete parameters to the definition of intersex.

In biological terms, sex may be determined by a number of factors present at birth, including:[32]

People whose characteristics are not either all typically male or all typically female at birth are intersex.[33]

Some intersex traits are not always visible at birth; some babies may be born with ambiguous genitals, while others may have ambiguous internal organs (testes and ovaries). Others will not become aware that they are intersex unless they receive genetic testing, because it does not manifest in their phenotype.

From early history, societies have been aware of intersex people. Some of the earliest evidence is found in mythology: the Greek historian Diodorus Siculus wrote of the mythological Hermaphroditus in the first century BCE, who was "born with a physical body which is a combination of that of a man and that of a woman", and reputedly possessed supernatural properties.[34] Ardhanarishvara, an androgynous composite form of male deity Shiva and female deity Parvati, originated in Kushan culture as far back as the first century CE.[35] A statue depicting Ardhanarishvara is included in India's Meenkashi Temple; this statue clearly shows both male and female bodily elements.[36]

Hippocrates (c.460 c.370 BC Greek physician) and Galen (129 c.200/216 AD Roman physician, surgeon and philosopher) both viewed sex as a spectrum between men and women, with "many shades in between, including hermaphrodites, a perfect balance of male and female".[37] Pliny the Elder (AD 23/2479) the Roman naturalist described "those who are born of both sexes, whom we call hermaphrodites, at one time androgyni" (andr-, "man," and gyn-, "woman," from the Greek).[38] Augustine (354 28 August 430 AD) the influential catholic theologian wrote in The Literal Meaning of Genesis that humans were created in two sexes, despite "as happens in some births, in the case of what we call androgynes".[37]

In medieval and early modern European societies, Roman law, post-classical canon law, and later common law, referred to a person's sex as male, female or hermaphrodite, with legal rights as male or female depending on the characteristics that appeared most dominant.[39] The 12th-century Decretum Gratiani states that "Whether an hermaphrodite may witness a testament, depends on which sex prevails".[40][41][42] The foundation of common law, the 17th Century Institutes of the Lawes of England described how a hermaphrodite could inherit "either as male or female, according to that kind of sexe which doth prevaile."[43][44] Legal cases have been described in canon law and elsewhere over the centuries.

Some non-European societies have sex or gender systems that recognize more than the two categories of male/man and female/woman. Some of these cultures, for instance the South-Asian Hijra communities, may include intersex people in a third gender category.[45][46] Hawaiian culture in the past and today see intersex individuals as having more power "mana", both mentally and spiritually, than a single sex person. Althoughaccording to Morgan Holmesearly Western anthropologists categorized such cultures "primitive," Holmes has argued that analyses of these cultures have been simplistic or romanticized and fail to take account of the ways that subjects of all categories are treated.[47]

During the Victorian era, medical authors introduced the terms "true hermaphrodite" for an individual who has both ovarian and testicular tissue, "male pseudo-hermaphrodite" for a person with testicular tissue, but either female or ambiguous sexual anatomy, and "female pseudo-hermaphrodite" for a person with ovarian tissue, but either male or ambiguous sexual anatomy. Some later shifts in terminology have reflected advances in genetics, while other shifts are suggested to be due to pejorative associations.[48]

The term intersexuality was coined by Richard Goldschmidt in 1917.[49] The first suggestion to replace the term 'hermaphrodite' with 'intersex' was made by Cawadias in the 1940s.[50]

Since the rise of modern medical science, some intersex people with ambiguous external genitalia have had their genitalia surgically modified to resemble either female or male genitals. Surgeons pinpointed intersex babies as a "social emergency" when born.[51] An 'optimal gender policy', initially developed by John Money, stated that early intervention helped avoid gender identity confusion, but this lacks evidence.[52] Early interventions have adverse consequences for psychological and physical health.[21] Since advances in surgery have made it possible for intersex conditions to be concealed, many people are not aware of how frequently intersex conditions arise in human beings or that they occur at all.[53]

Dialogue between what were once antagonistic groups of activists and clinicians has led to only slight changes in medical policies and how intersex patients and their families are treated in some locations.[54] In 2011, Christiane Vlling became the first intersex person known to have successfully sued for damages in a case brought for non-consensual surgical intervention.[29] In April 2015, Malta became the first country to outlaw non-consensual medical interventions to modify sex anatomy, including that of intersex people.[30] Many civil society organizations and human rights institutions now call for an end to unnecessary "normalizing" interventions, including in the Malta declaration.[55][1]

Human rights institutions are placing increasing scrutiny on harmful practices and issues of discrimination against intersex people. These issues have been addressed by a rapidly increasing number of international institutions including, in 2015, the Council of Europe, the United Nations Office of the United Nations High Commissioner for Human Rights and the World Health Organization. These developments have been accompanied by International Intersex Forums and increased cooperation amongst civil society organizations. However, the implementation, codification, and enforcement of intersex human rights in national legal systems remains slow.

Regulatory suspension of non-consensual medical interventions

Stigmatization and discrimination from birth may include infanticide, abandonment, and the stigmatization of families. As noted in the "Intersex human rights" page, the birth of an intersex child was often viewed as a curse or a sign of a witch mother, especially in parts of Africa.[12][13] Abandonments and infanticides have been reported in Uganda,[12] Kenya,[56] South Asia,[57] and China.[14]

Infants, children and adolescents also experience "normalising" interventions on intersex persons that are medically unnecessary and the pathologisation of variations in sex characteristics. In countries where the human rights of intersex people have been studied, medical interventions to modify the sex characteristics of intersex people have still taken place without the consent of the intersex person.[58][59] Interventions have been described by human rights defenders as a violation of many rights, including (but not limited to) bodily integrity, non-discrimination, privacy, and experimentation.[60] These interventions have frequently been performed with the consent of the intersex person's parents, when the person is legally too young to consent. Such interventions have been criticized by the World Health Organization, other UN bodies such as the Office of the High Commissioner for Human Rights, and an increasing number of regional and national institutions due to their adverse consequences, including trauma, impact on sexual function and sensation, and violation of rights to physical and mental integrity.[1] The UN organizations decided that infant intervention should not be allowed, in favor of waiting for the child to mature enough to be a part of the decision-making this allows for a decision to be made with total consent.[61] In April 2015, Malta became the first country to outlaw surgical intervention without consent.[30][31] In the same year, the Council of Europe became the first institution to state that intersex people have the right not to undergo sex affirmation interventions.[30][31][62][63][64]

Explicit protection on grounds of intersex status

Explicit protection on grounds of intersex within attribute of sex

People born with intersex bodies are seen as different. Intersex infants, children, adolescents and adults "are often stigmatized and subjected to multiple human rights violations", including discrimination in education, healthcare, employment, sport, and public services.[2][1][65] Several countries have so far explicitly protected intersex people from discrimination, with landmarks including South Africa,[31][66] Australia,[67][68] and, most comprehensively, Malta.[69][70][71][72][73]

Standing to file in law and compensation claims was an issue in the 2011 case of Christiane Vlling in Germany.[29][74] A second case was adjudicated in Chile in 2012, involving a child and his parents.[75][76] A further successful case in Germany, taken by Michaela Raab, was reported in 2015.[77] In the United States, the Minor Child (M.C. v Aaronson) lawsuit was "a medical malpractice case related to the informed consent for a surgery performed on the Crawford's adopted child (known as M.C.) at [Medical University of South Carolina] in April 2006".[78] The case was one of the first lawsuit of its kind to challenge "legal, ethical, and medical issues regarding genital-normalizing surgery" in minors, and was eventually settled out of court by the Medical University of South Carolina for $440,000 in 2017.[79]

Access to information, medical records, peer and other counselling and support. With the rise of modern medical science in Western societies, a secrecy-based model was also adopted, in the belief that this was necessary to ensure "normal" physical and psychosocial development.[20][21][80][81][82][83]

The Asia Pacific Forum of National Human Rights Institutions states that legal recognition is firstly "about intersex people who have been issued a male or a female birth certificate being able to enjoy the same legal rights as other men and women."[22] In some regions, obtaining any form of birth certification may be an issue. A Kenyan court case in 2014 established the right of an intersex boy, "Baby A", to a birth certificate.[84]

Like all individuals, some intersex individuals may be raised as a certain sex (male or female) but then identify with another later in life, while most do not.[85][27][pageneeded][86][87] Recognition of third sex or gender classifications occurs in several countries,[88][89][90][91] However, it is controversial when it becomes assumed or coercive, as is the case with some German infants.[92][93] Sociological research in Australia, a country with a third 'X' sex classification, shows that 19% of people born with atypical sex characteristics selected an "X" or "other" option, while 52% are women, 23% men, and 6% unsure.[28][94]

Research in the late 20th century led to a growing medical consensus that diverse intersex bodies are normal, but relatively rare, forms of human biology.[27][pageneeded][95][96][97] Clinician and researcher Milton Diamond stresses the importance of care in the selection of language related to intersex people:

Foremost, we advocate use of the terms "typical", "usual", or "most frequent" where it is more common to use the term "normal." When possible avoid expressions like maldeveloped or undeveloped, errors of development, defective genitals, abnormal, or mistakes of nature. Emphasize that all of these conditions are biologically understandable while they are statistically uncommon.[98]

Some people with intersex traits self-identify as intersex, and some do not.[99][100] Australian sociological research published in 2016, found that 60% of respondents used the term "intersex" to self-describe their sex characteristics, including people identifying themselves as intersex, describing themselves as having an intersex variation or, in smaller numbers, having an intersex condition. A majority of 75% of survey respondents also self-described as male or female.[28] Respondents also commonly used diagnostic labels and referred to their sex chromosomes, with word choices depending on audience.[28][94] Research by the Lurie Children's Hospital, Chicago, and the AIS-DSD Support Group published in 2017 found that 80% of affected Support Group respondents "strongly liked, liked or felt neutral about intersex" as a term, while caregivers were less supportive.[101] The hospital reported that "disorders of sex development" may negatively affect care.[102]

Some intersex organizations reference "intersex people" and "intersex variations or traits"[103] while others use more medicalized language such as "people with intersex conditions",[104] or people "with intersex conditions or DSDs (differences of sex development)" and "children born with variations of sex anatomy".[105] In May 2016, Interact Advocates for Intersex Youth published a statement recognizing "increasing general understanding and acceptance of the term "intersex"".[106]

However, a study by the American Urological Association found that 53% of participants didnt like the term intersex.[107] Another study in 2020 found that 43% didnt like the term intersex.[108] Another study in 2020 found that around 43% of 179 participants thought the term intersex was bad, while 20% felt neutral about the term.[109]

A hermaphrodite is an organism that has both male and female reproductive organs. Until the mid-20th century, "hermaphrodite" was used synonymously with "intersex".[50] The distinctions "male pseudohermaphrodite", "female pseudohermaphrodite" and especially "true hermaphrodite"[110] are terms no longer used, which reflected histology (microscopic appearance) of the gonads.[111][112][113] Medical terminology has shifted not only due to concerns about language, but also a shift to understandings based on genetics.

Currently, hermaphroditism is not to be confused with intersex, as the former refers only to a specific phenotypical presentation of sex organs and the latter to a more complex combination of phenotypical and genotypical presentation. Using hermaphrodite to refer to intersex individuals is considered to be stigmatizing and misleading.[114] Hermaphrodite is used for animal and plant species in which the possession of both ovaries and testes is either serial or concurrent, and for living organisms without such gonads but present binary form of reproduction, which is part of the typical life history of those species; intersex has come to be used when this is not the case.

"Disorders of sex development" (DSD) is a contested term,[9][10] defined to include congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Members of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology adopted this term in their "Consensus statement on management of intersex disorders".[8][52] While it adopted the term, to open "many more doors", the now defunct Intersex Society of North America itself remarked that intersex is not a disorder.[115] Other intersex people, activists, supporters, and academics have contested the adoption of the terminology and its implied status as a "disorder", seeing this as offensive to intersex individuals who do not feel that there is something wrong with them, regard the DSD consensus paper as reinforcing the normativity of early surgical interventions, and criticize the treatment protocols associated with the new taxonomy.[116]

Sociological research in Australia, published in 2016, found that 3% of respondents used the term "disorders of sex development" or "DSD" to define their sex characteristics, while 21% use the term when accessing medical services. In contrast, 60% used the term "intersex" in some form to self-describe their sex characteristics.[94] U.S. research by the Lurie Children's Hospital, Chicago, and the AIS-DSD Support Group published in 2017 found that "disorders of sex development" terminology may negatively affect care, give offense, and result in lower attendance at medical clinics.[102][101]

Alternatives to categorizing intersex conditions as "disorders" have been suggested, including "variations of sex development".[11] Organisation Intersex International (OII) questions a disease/disability approach, argues for deferral of intervention unless medically necessary, when fully informed consent of the individual involved is possible, and self-determination of sex/gender orientation and identity.[117] The UK Intersex Association is also highly critical of the label 'disorders' and points to the fact that there was minimal involvement of intersex representatives in the debate which led to the change in terminology.[118] In May 2016, Interact Advocates for Intersex Youth also published a statement opposing pathologizing language to describe people born with intersex traits, recognizing "increasing general understanding and acceptance of the term "intersex"".[106]

However, another study found that around 69% agree the term disorders of sex development applied to their condition or were neutral, 31% thought the term didnt apply to their condition.[119]

Intersex can be contrasted with transgender,[120] which is the condition in which one's gender identity does not match one's assigned sex.[120][121][122] Some people are both intersex and transgender.[123] A 2012 clinical review paper found that between 8.5% and 20% of people with intersex variations experienced gender dysphoria.[86] In an analysis of the use of preimplantation genetic diagnosis to eliminate intersex traits, Behrmann and Ravitsky state: "Parental choice against intersex may ... conceal biases against same-sex attractedness and gender nonconformity."[124]

The relationship of intersex to lesbian, gay, bisexual and trans, and queer communities is complex,[125] but intersex people are often added to LGBT to create an LGBTI community. Emi Koyama describes how inclusion of intersex in LGBTI can fail to address intersex-specific human rights issues, including creating false impressions "that intersex people's rights are protected" by laws protecting LGBT people, and failing to acknowledge that many intersex people are not LGBT.[126] Organisation Intersex International Australia states that some intersex individuals are same sex attracted, and some are heterosexual, but "LGBTI activism has fought for the rights of people who fall outside of expected binary sex and gender norms."[127][128] Julius Kaggwa of SIPD Uganda has written that, while the gay community "offers us a place of relative safety, it is also oblivious to our specific needs".[129] Mauro Cabral has written that transgender people and organizations "need to stop approaching intersex issues as if they were trans issues" including use of intersex as a means of explaining being transgender; "we can collaborate a lot with the intersex movement by making it clear how wrong that approach is".[130]

An intersex character is the narrator in Jeffrey Eugenides' Pulitzer Prize-winning novel Middlesex.

The memoir, Born Both: An Intersex Life (Hachette Books, 2017), by intersex author and activist Hida Viloria, received strong praise from The New York Times Book Review, The Washington Post, Rolling Stone, People Magazine, and Psychology Today, was one of School Library Journal's 2017 Top Ten Adult Books for Teens, and was a 2018 Lambda Literary Award nominee.

Television works about intersex and films about intersex are scarce. The Spanish-language film XXY won the Critics' Week grand prize at the 2007 Cannes Film Festival and the ACID/CCAS Support Award.[131] Faking It is notable for providing both the first intersex main character in a television show,[132] and television's first intersex character played by an intersex actor.[133]

Intersex peer support and advocacy organizations have existed since at least 1985, with the establishment of the Androgen Insensitivity Syndrome Support Group Australia in 1985.[134] The Androgen Insensitivity Syndrome Support Group (UK) established in 1988.[135] The Intersex Society of North America (ISNA) may have been one of the first intersex civil society organizations to have been open to people regardless of diagnosis; it was active from 1993 to 2008.[136]

Intersex Awareness Day is an internationally observed civil awareness day designed to highlight the challenges faced by intersex people, occurring annually on 26 October. It marks the first public demonstration by intersex people, which took place in Boston on 26 October 1996, outside a venue where the American Academy of Pediatrics was holding its annual conference.[137]

Intersex Day of Remembrance, also known as Intersex Solidarity Day, is an internationally observed civil awareness day designed to highlight issues faced by intersex people, occurring annually on 8 November. It marks the birthday of Herculine Barbin, a French intersex person whose memoirs were later published by Michel Foucault in Herculine Barbin: Being the Recently Discovered Memoirs of a Nineteenth-century French Hermaphrodite.

In Hinduism, Sangam literature uses the word pedi to refer to people born with an intersex condition; it also refers to antharlinga hijras and various other hijras.[138] Warne and Raza argue that an association between intersex and hijra people is mostly unfounded but provokes parental fear.[57]

In Judaism, the Talmud contains extensive discussion concerning the status of two intersex types in Jewish law; namely the androgynous, which exhibits both male and female external sexual organs, and the tumtum which exhibits neither. In the 1970s and 1980s, the treatment of intersex babies started to be discussed in Orthodox Jewish medical halacha by prominent rabbinic leaders, for example Eliezer Waldenberg and Moshe Feinstein.[139]

Erik Schinegger, Foekje Dillema, Maria Jos Martnez-Patio and Santhi Soundarajan were subject to adverse sex verification testing resulting in ineligibility to compete in organised competitive competition. Stanisawa Walasiewicz was posthumously ruled ineligible to have competed.[140]

The South African middle-distance runner Caster Semenya won gold at the World Championships in the women's 800 metres and won silver in the 2012 Summer Olympics. When Semenya won gold in the World Championships, the International Association of Athletics Federations (IAAF) requested sex verification tests. The results were not released. Semenya was ruled eligible to compete.[141]

Katrina Karkazis, Rebecca Jordan-Young, Georgiann Davis and Silvia Camporesi have claimed that IAAF policies on "hyperandrogenism" in female athletes, are "significantly flawed", arguing that the policy will not protect against breaches of privacy, will require athletes to undergo unnecessary treatment in order to compete, and will intensify "gender policing". They recommend that athletes be able to compete in accordance with their legally recognised gender.[142]

In April 2014, the BMJ reported that four elite women athletes with 5-ARD (an intersex medical condition) were subjected to sterilization and "partial clitoridectomies" in order to compete in sport. The authors noted that partial clitoridectomy was "not medically indicated" and "does not relate to real or perceived athletic 'advantage'."[16] Intersex advocates regard this intervention as "a clearly coercive process".[143] In 2016, the United Nations Special Rapporteur on health, Dainius Pras, criticized "current and historic" sex verification policies, describing how "a number of athletes have undergone gonadectomy (removal of reproductive organs) and partial clitoridectomy (a form of female genital mutilation) in the absence of symptoms or health issues warranting those procedures."[144]

Estimates of the number of people who are intersex vary, depending on which conditions are counted as intersex.[145]

Leonard Sax estimated that the prevalence of intersex was about 0.018% of the world's population.[145] A 2018 review reported that the number of births with ambiguous genitals is in the range of 0.02% to 0.05%.[25]

The now-defunct Intersex Society of North America stated that:

If you ask experts at medical centers how often a child is born so noticeably atypical in terms of genitalia that a specialist in sex differentiation is called in, the number comes out to about 1 in 1500 to 1 in 2000 births [0.070.05%]. But a lot more people than that are born with subtler forms of sex anatomy variations, some of which won't show up until later in life.[146]

Anne Fausto-Sterling and her co-authors said in two articles in 2000 that 1.7 percent of human births (1 in 60) might be intersex, including variations that may not become apparent until, for example, puberty, or until attempting to conceive.[147][148] Their publications have been widely quoted,[62][149][150] though aspects are now considered outdated, such as use of the now scientifically incorrect term hermaphrodite.[151]Eric Vilain et al. highlighted in 2007 that the term disorders of sex development (DSD) had replaced "hermaphrodite" and improper medical terms based on it.[152]

Of the 1.7%, 1.5 percentage points (88% of those considered intersex in this figure) consist of individuals with late onset congenital adrenal hyperplasia (LOCAH). Leonard Sax stated that "[f]rom a clinicians perspective, however, LOCAH is not an intersex condition."[145]

The figure of 1.7% is still maintained by Intersex Human Rights Australia "despite its flaws".[153] "This estimate relates to any 'individual who deviates from the Platonic ideal of physical dimorphism at the chromosomal, genital, gonadal, or hormonal levels' and thus it encapsulates the entire population of people who are stigmatized or risk stigmatization due to innate sex characteristics."

Individuals with diagnoses of disorders of sex development (DSD) may or may not experience stigma and discrimination due to their sex characteristics, including sex "normalizing" interventions. Human rights institutions have called for the de-medicalization of intersex traits, as far as possible.[20][62][154][155]

The following summarizes some prevalence figures of intersex traits (a fuller 'List of conditions' is provided below, at the end of 'Medical classifications'):

Population figures can vary due to genetic causes. In the Dominican Republic, 5-alpha-reductase deficiency is not uncommon in the town of Las Salinas, resulting in social acceptance of the intersex trait.[175] Men with the trait are called "gevedoces" (Spanish for "eggs at twelve"). 12 out of 13 families had one or more male family members that carried the gene. The overall incidence for the town was 1 in every 90 males were carriers, with other males either non-carriers or non-affected carriers.[176]

The common pathway of sexual differentiation, where a productive human female has an XX chromosome pair, and a productive male has an XY pair, is relevant to the development of intersex conditions.

During fertilization, the sperm adds either an X (female) or a Y (male) chromosome to the X in the ovum. This determines the genetic sex of the embryo.[177] During the first weeks of development, genetic male and female fetuses are "anatomically indistinguishable", with primitive gonads beginning to develop during approximately the sixth week of gestation. The gonads, in a "bipotential state", may develop into either testes (the male gonads) or ovaries (the female gonads), depending on the consequent events.[177] Through the seventh week, genetically female and genetically male fetuses appear identical.

At around eight weeks of gestation, the gonads of an XY embryo differentiate into functional testes, secreting testosterone. Ovarian differentiation, for XX embryos, does not occur until approximately week 12 of gestation. In typical female differentiation, the Mllerian duct system develops into the uterus, Fallopian tubes, and inner third of the vagina.In males, the Mllerian duct-inhibiting hormone MIH causes this duct system to regress. Next, androgens cause the development of the Wolffian duct system, which develops into the vas deferens, seminal vesicles, and ejaculatory ducts.[177]By birth, the typical fetus has been completely "sexed" male or female, meaning that the genetic sex (XY-male or XX-female) corresponds with the phenotypical sex; that is to say, genetic sex corresponds with internal and external gonads, and external appearance of the genitals.

There are a variety of symptoms that can occur. Ambiguous genitalia being the most common sign, there can be micropenis, clitoromegaly, partial labial fusion, electrolyte abnormalities, delayed or absent puberty, unexpected changes at puberty, hypospadias, labial or inguinal (groin) masses (which may turn out to be testes) in girls and undescended testes (which may turn out to be ovaries) in boys.[178]

Ambiguous genitalia may appear as a large clitoris or as a small penis.

Because there is variation in all of the processes of the development of the sex organs, a child can be born with a sexual anatomy that is typically female or feminine in appearance with a larger-than-average clitoris (clitoral hypertrophy) or typically male or masculine in appearance with a smaller-than-average penis that is open along the underside. The appearance may be quite ambiguous, describable as female genitals with a very large clitoris and partially fused labia, or as male genitals with a very small penis, completely open along the midline ("hypospadic"), and empty scrotum. Fertility is variable.

The orchidometer is a medical instrument to measure the volume of the testicles. It was developed by Swiss pediatric endocrinologist Andrea Prader. The Prader scale[179] and Quigley scale are visual rating systems that measure genital appearance. These measurement systems were satirized in the Phall-O-Meter, created by the (now defunct) Intersex Society of North America.[180][181][182]

In order to help in classification, methods other than a genitalia inspection can be performed. For instance, a karyotype display of a tissue sample may determine which of the causes of intersex is prevalent in the case. Additionally, electrolyte tests, endoscopic exam, ultrasound and hormone stimulation tests can be done.[183]

Intersex can be divided into four categories which are: 46, XX intersex; 46, XY intersex; true gonadal intersex; and complex or undetermined intersex.[citation needed]

This condition used to be called "female pseudohermaphroditism". Persons with this condition have female internal genitalia and karyotype (XX) and various degree of external genitalia virilization.[184] External genitalia is masculinized congenitally when female fetus is exposed to excess androgenic environment.[178] Hence, the chromosome of the person is of a woman, the ovaries of a woman, but external genitals that appear like a male. The labia fuse, and the clitoris enlarges to appear like a penis. The causes of this can be male hormones taken during pregnancy, congenital adrenal hyperplasia, male-hormone-producing tumors in the mother and aromatase deficiency.[178]

This condition used to be called "male pseudohermaphroditism". This is defined as incomplete masculinization of the external genitalia.[185] Thus, the person has the chromosomes of a man, but the external genitals are incompletely formed, ambiguous, or clearly female.[178][186] This condition is also called 46, XY with undervirilization.[178] 46, XY intersex has many possible causes, which can be problems with the testes and testosterone formation.[178] Also, there can be problems with using testosterone. Some people lack the enzyme needed to convert testosterone to dihydrotestosterone, which is a cause of 5-alpha-reductase deficiency.[178] Androgen Insensitivity Syndrome is the most common cause of 46, XY intersex.[178]

This condition used to be called "true hermaphroditism". This is defined as having asymmetrical gonads with ovarian and testicular differentiation on either sides separately or combined as ovotestis.[187] In most cases, the cause of this condition is unknown; however, some research has linked it to exposure to common agricultural pesticides.[187]

This is the condition of having any chromosome configurations rather than 46, XX or 46, XY intersex.[178] This condition does not result in any imbalance between internal and external genitalia.[178] However, there may be problems with sex hormone levels, overall sexual development, and altered numbers of sex chromosomes.[178]

There are a variety of opinions on what conditions or traits are and are not intersex, dependent on the definition of intersex that is used. Current human rights based definitions stress a broad diversity of sex characteristics that differ from expectations for male or female bodies.[2] During 2015, the Council of Europe,[62] the European Union Agency for Fundamental Rights[154] and Inter-American Commission on Human Rights[155] have called for a review of medical classifications on the basis that they presently impede enjoyment of the right to health; the Council of Europe expressed concern that "the gap between the expectations of human rights organisations of intersex people and the development of medical classifications has possibly widened over the past decade".[62][154][155]

Medical interventions take place to address physical health concerns and psychosocial risks. Both types of rationale are the subject of debate, particularly as the consequences of surgical (and many hormonal) interventions are lifelong and irreversible. Questions regarding physical health include accurately assessing risk levels, necessity, and timing. Psychosocial rationales are particularly susceptible to questions of necessity as they reflect social and cultural concerns.

There remains no clinical consensus about an evidence base, surgical timing, necessity, type of surgical intervention, and degree of difference warranting intervention.[188][189][190] Such surgeries are the subject of significant contention due to consequences that include trauma, impact on sexual function and sensation, and violation of rights to physical and mental integrity.[1] This includes community activism,[48] and multiple reports by international human rights[18][62][22][191] and health[83] institutions and national ethics bodies.[21][192]

In the cases where gonads may pose a cancer risk, as in some cases of androgen insensitivity syndrome,[193] concern has been expressed that treatment rationales and decision-making regarding cancer risk may encapsulate decisions around a desire for surgical "normalization".[20]

Notes

Bibliography

Media related to Intersex at Wikimedia Commons

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Intersex - Wikipedia

Recommendation and review posted by Bethany Smith

The human geneticist Bryan Sykes, who has died aged 73, pushed forward the analysis of inherited conditions such as brittle bone disease and double-jointedness, and was one of the first to extract DNA from ancient bone.

The same Bryan Sykes, holder of a personal chair at Oxford University, analysed hair supposedly taken from mythical hominids such as the Bigfoot and Yeti, and announced the results in a three-part television series. His delight in science and enthusiasm for communicating it to popular audiences were both aspects of an expansive personality that alternately inspired and exasperated his colleagues.

Sykes was not the only one to realise that the ability to read sequences of DNA code opened up the possibility of tracing human ancestry to our early origins. He was exceptional, however, in seeing that the wider public would connect emotionally to these stories if the dry details of the science could be presented accessibly. His book The Seven Daughters of Eve (2001) proposed that every living European could trace his or her ancestry to one of seven women living between 8,500 and 45,000 years ago. They, in turn, would share descent from a single Eve, who lived in Africa even earlier. He gave the seven women names and, anticipating peoples desire to know which tribe they belonged to, the same year set up the first direct-to-consumer genetic testing company, Oxford Ancestors, as an Oxford University spinout.

Sykes began this work long before modern methods of whole-genome DNA sequencing were available. When, in the late 1980s, he, Erica Hagelberg and Robert Hedges of Oxfords Research Laboratory for Archaeology first extracted DNA from bones up to 12,000 years old, they opted to focus on mitochondrial DNA (mtDNA). There are more than 1,000 mitochondria in each cell but only one nucleus (where most of our DNA resides), increasing the chances of retrieving mtDNA. But Sykes soon appreciated that it has another property. It is inherited largely unchanged in the maternal line over thousands of years, while nuclear DNA is mixed with every generation. To test whether it would be possible to use mtDNA to trace distant ancestors, Sykes first confirmed that domesticated golden hamsters from numerous locations, which he had heard were all descended from a single wild-caught female, had the same signature in their mtDNA.

Sykes went on to use this method to solve the mystery of the origins of islanders scattered throughout the Pacific Ocean: whether they had arrived from the Americas, as Thor Heyerdahl had suggested on the basis of the 1947 voyage of the Kon-Tiki raft, or from Asia. Receiving hospital treatment on Raratonga in the Cook Islands after a motorcycle accident while on holiday in the mid-90s, Sykes realised he could resolve this uncertainty using mtDNA. He went on to collect samples from Pacific islands and Pacific Rim countries, and established that Polynesia was in fact entirely settled from Asia.

In 1987 he won a British Association for the Advancement of Science media fellowship that enabled him to spend seven weeks working with Channel 4 News. The lessons he learned about what makes a good story came to the fore in Seven Daughters and his subsequent books.

Adams Curse (2003) drew some controversial conclusions about the influence of the Y chromosome on male behaviour, but also covered studies that traced descent via Y chromosomes. These pass from father to son, like British surnames, though without the uncertainty introduced by nonpaternity events. When the chairman of the pharmaceutical company GlaxoSmithKline, Sir Richard Sykes, wondered if the two of them might be related, Bryan collected DNA from dozens of Sykeses in Britain. He discovered that more than half of them shared the same unusual Y chromosome variant, suggesting a single founding father in Yorkshire in the 13th or 14th century.

His collaboration with enthusiasts searching for the Bigfoot and Yeti raised eyebrows even higher. Hairs from bits of mystery creatures that had long lain in museums and temples made their way to his lab. The three-part Channel 4 series Bigfoot Files (2015) maintained the suspense to the end, but all the samples proved to come from known animal species. A hasty claim that a Yeti specimen was a match to a prehistoric polar bear proved to be a case of mistaken identity. For Sykes it was all education as entertainment he never seriously believed that such creatures existed, but sought to encourage curiosity rather than squashing it.

Born in London, Bryan was the son of Frank Sykes, an accountant, and his wife, Irene. He attended the independent boys school Eltham college, near his home in south-east London, and developed passions for the natural world, experiments and inventions. He also excelled at cross-country running, rugby and swimming.

He studied biochemistry at the University of Liverpool, and did a PhD at the University of Bristol on the connective tissue protein elastin. He arrived at Oxford in 1973 as a research fellow in the Nuffield department of orthopaedic surgery, continuing to work on elastin and collagen. By the time he was appointed lecturer in molecular pathology in 1987, he was deploying new genetic techniques to explore inherited disorders of bone and connective tissue. His collagen genetics group moved from orthopaedic surgery to Oxfords newly established Institute of Molecular Medicine, founded by the geneticist Sir David Weatherall, who was an important mentor. He was appointed to a personal chair in human genetics in 1997, and formally retired in 2016.

Sykess expertise in bone led to his involvement in the effort to extract DNA from ancient specimens. As his interest in studies of human populations developed, he recruited lab members who worked in that area alongside those who continued his pathological studies. Colleagues remember the lab as being unusually collaborative, though occasionally disrupted by TV cameras, and Sykes himself as encouraging and supportive. He took them all to Scotland in 1998 to assist with the collection of samples for his work on prehistoric migration into Britain (published as Blood of the Isles, 2006). A keen fisherman, he got out his rods in the bar of their hotel to teach them how to cast a fly.

Sykes was extremely smart and a brilliant communicator, with a streak of mischief: he didnt turn a hair when Italian colleagues casually invited him to access the bone store at Pompeii by climbing over a fence (they had arrived before opening time), and there was always champagne in the lab when anyone published a paper.

Sykes met Sue Foden when she was a student in Oxford, and they were married in 1978. Though the marriage was annulled in 1984, he and Sue remained close and had a son, Richard, born in 1991. His later marriage to Janis Wilson ended in divorce. In 2007 he collaborated with the Danish artist Ulla Plougmand on an exhibition featuring the seven daughters of Eve, and their subsequent relationship lasted until the end of his life. In later years, as his health deteriorated, Bryan was increasingly supported and cared for by Sue. She, Ulla and Richard survive him.

Bryan Clifford Sykes, geneticist, born 9 September 1947; died 10 December 2020

See original here:
Bryan Sykes obituary - The Guardian

Recommendation and review posted by Bethany Smith

Smoking is consistently seen as a risk for various cancers, and in recent years it has been connected to colorectal cancer in particular. In 2014, the US Surgeon General issued a report on tobacco claiming smoking as a direct cause of colorectal and liver cancer, and a factor that increases the failure rate of cancer treatment.

Several studies have been conducted that assess the link between smoking and colorectal cancer, including one in 2020 in the American Journal of Epidemiology examining how anatomic subsite and sex affect risk. What are some of the specific colorectal cancer risks clinicians can discuss with patients who smoke?

This study evaluated more than 215,000 men and women from 45 to 75 years old. These participants were enrolled from 1993 to 1996 and answered a questionnaire that included information on their smoking habits and ascertained information on colorectal cancer history through either their death or through December 31, 2013.

The researchers found that while female smokers had less pack-years of smoking than male smokers, both sexes had similar smoking-related risk for colorectal cancer. Clinicians should make their female patients aware that they may be putting themselves at significant risk for colorectal cancer regardless of how long they have been smoking.

The researchers also found that postmenopausal women in particular had high smoking-related risk of right colon cancer. This finding held true regardless of whether participants had undergone hormone therapy during menopause. When discussing smoking-related risks for women, physicians should let these patients know that they may face even greater risk once they go through menopause.

An October 2020 study published in Cancer Research and Management investigated colorectal cancer risk factors and found tobacco use to be a significant contributing factor. In addition to estimating that 12% of colorectal cancer deaths can be attributed to tobacco use, the researchers claim that smokers showed an earlier average age of onset of colorectal cancer.

Frequent alcohol consumption has also been associated with colorectal cancer risk. Patients who smoke should be advised of this, as there can be a social relationship between alcohol and tobacco use that can potentially increase add risk.

Smoking in tandem with certain diseases may present individuals with unique risks. A 2020 study published in Medicine (Baltimore) looked at risk factors associated with colorectal cancer in patients with ulcerative colitis. The researchers found that while only 5.5% of the 254 subjects were smokers at their last recorded appointment, active smoking was a significant risk factor for colorectal cancer. In this study, former smokers were categorized as nonsmokers.

Although any smoking history may be a risk for colorectal cancer, medical professionals may want to warn patients that active and prolonged smoking habits may present an added risk for them.

References

Read more here:
Smoking Risks for Colorectal Cancer to Discuss With Patients - Cancer Therapy Advisor

Recommendation and review posted by Bethany Smith

Dr. Faye Yin

Dr. Faye Yin

Melanoma is a serious and life-threatening form of cancer that begins in the skin but can spread rapidly if not treated early. We sat down with board-certified oncologist Dr. Faye Yin, an oncologist at Jersey City Medical Center, to learn more about this disease, its causes and risk factors, and why its important to protect yourself from excessive sun exposure even during the cold winter months.

What are the main risk factors for developing melanoma?

Ultraviolet, or UV, light exposure is the major risk factor. Melanoma is associated with both UVB rays, which are present in sunlight, and UVA rays, which are generated by tanning beds. Other risk factors include the presence of moles on the skin. Most are benign, but those with excessive moles should consult a dermatologist, especially if they observe any changes. Often, a mole will be removed as a precautionary measure. Age is also a risk factor; the older the person, the higher the risk. People with fair skin, freckles, and lighter hair are also more susceptible, which is why melanoma is more common in white and light-skinned people. Other risk factors include family history and the presence of a weakened immune system. Those with xeroderma pigmentosum, or XP, a rare genetic disorder, are particularly at risk because the condition affects the ability of skin cells to repair themselves after UV light exposure.

What should people do if they have any of these risk factors?

As with most risk factors impacting health, there are things you can change, and things you cannot. You cant change your skin color or family history, and you cant avoid getting older. But you can limit your exposure to UV rays. A popular catchphrase that I tell my patients, which has been promoted by the American Cancer Society, is Slip, Slop, Slap, and Wrap. Slip on a shirt, slop on some sunscreen, slap on a hat, and wrap on some sunglasses. I also recommend that people avoid using tanning beds and sun lamps. Teaching children about sun safety is especially important, because they tend to spend more time outdoors and can burn more easily. It is also important for people with risk factors to pay closer attention to their skin. Keep an eye out for abnormal moles or other skin features that appear to be unusual or changing over time, and consult a dermatologist if necessary.

Can sunlight still be dangerous during winter?

Yes whether youre skiing or just going for a walk, it is great to enjoy the sun and being outdoors in the winter, but its just as important to protect yourself from excess sun exposure in winter as it is in summer. Harmful ultraviolet rays are present year-round. They can even filter through dark cloud coverage to reach your skin, increasing your risk of melanoma. Some people may experience a bad sunburn on a winter vacation, especially if they ski in high altitudes, because UV rays are usually more intense in higher regions with a thinner atmosphere. When youre outside, any uncovered areas of your body are exposed to UV rays. So, its important to wear sunscreen even in the winter months.

Is smoking a risk factor for developing melanoma, and if so, is it mostly if youre currently smoking (for instance, what if you smoked for years and stopped?)

As an oncologist, every day I tell my patients: dont smoke! Smoking is a contributing factor for many cancers, and I believe that it also affects overall skin health; I can often look at someones skin and tell whether they smoke. That having been said, we dont have evidence that smoking directly contributes to melanoma. But I always encourage patients not to smoke to stay healthy and minimize their cancer risk.

Why does having a weakened immune system count as a risk factor for melanoma?

Having a weakened immune system increases the risk of melanoma and other cancers. I have worked with many patients whose immune systems have been compromised, either by illness or in some cases due to medical treatment for other conditions. For example, immunosuppressive drugs are used after stem cell and organ transplants, to prevent the body from rejecting the transplant. Certain diseases also compromise the immune system, such as HIV. A weakened immune system increases cancer risk for two reasons. First, because the body has less ability to detect and destroy cancer cells. And secondly, because the body is more susceptible to infections that may lead to cancer.

Is gender a risk factor? If so, do we know why?

In the United States, men typically have a higher rate of melanoma than women, though this varies by age. Before age 50, the risk is higher for women, and after age 50, the risk is higher in men. We believe that this discrepancy relates to the fact that men are likely to spend more time in the sun over the course of their lifetimes. I also think that women are more likely to wear sunscreen than men, so this may play a role. In addition, men tend to have thicker skin with less fat beneath it and more collagen, and some research shows that this can make the skin more susceptible to sunlight damage. Also, some studies have shown that estrogen, which is more prevalent in women, can increase resistance to melanoma.

Are older people at higher risk for melanoma?

The risk of melanoma increases as you age. The average age for a melanoma diagnosis is age 65. But melanoma is not uncommon even among those younger than age 30. In fact, it is one of the most common cancers in young adults, especially young women. Melanoma is also more common in younger people whose families have a history of melanoma.

How does having a family history of having melanoma impact someone?

Family history is definitely a melanoma risk factor; the risk is higher among those who have one or more first-degree relatives who have had melanoma. About 10 percent of people diagnosed with melanoma have a family history. Families tend to have shared lifestyle habits, such as more frequent sun exposure, and in addition they typically have similar skin types and share certain genetic characteristics. You cant change your skin color or your genes, but you can change some factors. If you know that you are higher risk, and have a family history, pay close attention to your skin. Avoid excessive sunlight and tanning beds, and consult a dermatologist if you have concerns.

Why is UV light exposure a risk factor?

Numerous studies have shown that sun and UV light exposure is a major melanoma risk factor, especially for children and teens. Research shows that early sun exposure can damage the DNA in skin cells. Melanocytes are the cells that produce melanin, which gives skin its pigmentation, and damaging these cells can start the path to melanoma. Melanoma commonly occurs on the thighs of women, and on the trunks of men, as well as on arms and faces, which are the areas that most often receive chronic sun exposure in young people. In addition to limiting UV light exposure, people should also examine their own skin at least monthly, especially if there are high risk factors. If you see something unusual, such as a large mole or a spot youre not sure about, I will often encourage patients to take a photograph of it. You might not notice small changes over time because you get accustomed to them. But if you take a picture of a spot on your skin and compare it a month or a few months later, and you see a change, you should see a dermatologist.

View post:
The facts about the danger of melanoma - The Hudson Reporter

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Adrenomyeloneuropathy is a rare genetic neuro-degenerative disease. Adrenomyeloneuropathy is the adult onset of adrenoleukodystrophy caused by the mutation in ABCD1 gene occurs usually in young boys. Adrenomyeloneuropathy disease affect the nerve cells in the spine and brain and the adrenal glands. Adrenomyeloneuropathy symptoms includes stiffness, weakness and pain in the legs. Adrenomyeloneuropathy is also known as progressive spastic paraparesis. Damage to the nerves of the legs which causes unsteadiness and fall, also the bladder, bowel and sexual organs are affected by the adrenomyeloneuropathy. Rare diseases affect vast numbers of people, with current data representing 30 million sufferers in the EU alone and 30 million affected in the US. There is no cure to Adrenomyeloneuropathy. However some treatment might stop the progression of Adrenomyeloneuropathy such as stem cell transplants. Blood testing, MRI test, vision screening and Skin biopsy and fibroblast cell culture are done for the diagnosis for the adrenomyeloneuropathy. Continued advances in the treatment of adrenomyeloneuropathy will further propel the adrenomyeloneuropathy treatment market.

Growing cases of rare disease and development of new and advanced treatment for rare disease is expected to boost the adrenomyeloneuropathy treatment market. Growing preference for healthy lifestyle and favorable government regulation spur the Adrenomyeloneuropathy treatment market in the forecast period. Development of new technology and devices for the diagnosis of genetic disorders will propel the adrenomyeloneuropathy treatment market. Rising focus on the research and development of new therapeutic and drug treatment and growing government funding for the orphan drug is expected to drive the adrenomyeloneuropathy treatment market.

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However, stringent regulations for the drug development and high cost of associated with the treatment is expected to hinder the adrenomyeloneuropathy treatment market.

The global adrenomyeloneuropathy treatment market is segmented on basis of disease type, drug type and end user and geography.

Development of novel drugs and undergoing clinical trial for the rare disease is expected to boost adrenomyeloneuropathy treatment market. More than 3,000 drugs are in active development for one of the rare disease. Progress in genomics and biomedical science for the development of rare disease drug is expected to spur the adrenomyeloneuropathy treatment market. Various pharmaceutical companies are focusing on developing drug for the low prevalence disease types and rising funding and collaboration among the key players and government is expected to spur the adrenomyeloneuropathy treatment market.

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The North America market for adrenomyeloneuropathy treatment is expected to retain its dominance, owing to increasing patient pool for rare disease, increasing government funding to accelerate the research and development for rare disease. According to Genetic and Rare Diseases Information Center, more than 25 million Americans are suffering from rare disease in United States.Europe is expected to account for the second largest share in the global adrenomyeloneuropathy treatment market owing to growing clinical trial funding programs for orphan drug development and high prevalence of adrenomyeloneuropathy and high treatment seeking rate. Asia Pacific is expected to show significant growth, owing to increasing diagnosis rate and improvement in healthcare infrastructure. China is expected to show significant growth in the adrenomyeloneuropathy treatment market, due to rising population improving R&D capability, increasing per capita heath spending. Latin America and Middle East & Africa is expected to show growth owing to lack of diagnosis and inadequate healthcare facilities and lack of skilled physicians for Adrenomyeloneuropathy Treatment market.

Examples of some of the key manufacturer present in the global adrenomyeloneuropathy treatment market are Ascend Biopharmaceuticals, Novadip Biosciences, Eureka Therapeutics, Human Longevity, Regeneus, Allogene Therapeutics, BioRestorative Therapies, Immatics Biotechnologies, NewLink Genetics, Cytori Therapeutics, Talaris Therapeutics among others.

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The Adrenomyeloneuropathy Treatment Market to grow on an emphatic note from 2019 to 2029 - PharmiWeb.com

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Pune, Maharashtra, India, December 18 2020 (Wiredrelease) Brandessence Market Research and Consulting Pvt ltd :Global Cell Banking Outsourcing Market is valued at USD 7122.6 Million in 2019 and expected to reach USD 18489.6 Million by 2026 with the CAGR of 14.6% over the forecast period.

Rising prevalence of cancer and infectious chronic disorders couples with growing demand for research and development in therapy viral cell banking and viral cell banking safety testing are expected to propel the growth of the Global Cell Banking Outsourcing Market.

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Scope of Global Cell Banking Outsourcing Market Report

The cell banking outsourcing is an ability that stores cells of specific genome for the purpose of future use in a product or medicinal needs to use of gene therapy, stem cell therapy, biopharmaceutical production that target on novel active sites. They are frequently containing expansive amounts of base cell material that can be utilized for various projects. The cell banking outsourcing can be used to generate detailed characterizations of cell lines and can also help mitigate cross-contamination of a cell line. Hence, the cell banking outsourcing is commonly used within fields including stem cell research and pharmaceuticals with cryopreservation being the traditional method of keeping cellular material intact. However, the cell banking is most generally used in stem cell research and therapy. The similar types of cell banking include master cell banks and working cell banks. Although, the master cell banks are expanded to form working cell banks consist of pure cells from are replicated whereas working cell banks consist of thawed cells that are replicated in cell culture.

Additionally, it is a process of replicating and storing cells for the purpose of future use. This storage of these cell samples can be utilized for research purposes and for surgical reconstruction of damaged body structures. However, the bank storage in cell banking encompasses preservation of both master and working cell banking, and their respective safety testing. The cell banking outsourcing expected to witness lucrative growth over the forecast period owing to the presence of increased research in cell line development coupled with the presence of market players providing outsourcing services for cell banking and cell line storage to different hospitals and clinical research organizations.

Global Cell Banking Outsourcing Market report is segmented on the basis of type, application, and by regional & country level. Based on type, global cell banking outsourcing market is classified as the master cell banking, viral cell banking and working cell banking. Based upon application, global cell banking outsourcing is classified into bank storage, working cell bank storage, master cell bank storage cell storage stability testing, bank preparation, bank characterization & testing and others.

The regions covered in this cell banking outsourcing market report are North America, Europe, Asia-Pacific and Rest of the World. On the basis of country level, market of cell banking outsourcing is sub divided into U.S., Mexico, Canada, U.K., France, Germany, Italy, China, Japan, India, South East Asia, GCC, Africa, etc.

Cell Banking Outsourcing Manufacturers:

Some major key players for Global Cell Banking Outsourcing Market are,

BioReliance Covance Global Stem Inc BSL Disservice Clean cells Charles River Laboratories Lonza Toxikon Corporation Cryobanks International India Wuxi Apptec Reliance Life Sciences Life Cell International Pvt. Ltd BioOutsource (Sartorious) CordLife PXTherapeutics SA SGS Life Sciences Texcell Cryo-Cell International Inc. Others

Global Cell Banking Outsourcing Market Dynamics

The rapidly increasing awareness for stem cell banking in the developing countries, and increasing governments initiatives that promote awareness for stem cell isolation and related benefits are some of the major factors driving the market growth during the forecast period. In addition, increasing application of stem cells for developing personalized medicines to minimize the spread of various chronic diseases and also the association of aging with the inability of the body to maintain tissue turnover and hemostasis has helped researchers to focus on this target population for providing relative therapies that would act effectively on the damaged cells. These factors are also supplementing the market growth. According to the World Health Organization (WHO), estimates of cancer incidence and mortality produced by the International Agency for Research on Cancer, with a focus on geographic variability across 20 globes about 18.1 million new cancer cases about 17.0 million excluding no melanoma skin cancer and 9.6 million cancer deaths in 2018. Furthermore, the master cell banks are useful for the preparation of working cell banks and thus find applicability in various research and development perspectives for stem cell therapy and gene therapy thereby resulting to section growth. The occurrence of favorable government initiatives pertaining to the R&D for development of stable cell lines, the opening of new technology for storage and description of cell lines are among the critical factors predictable to advance market growth over the forecast period.

However, the high cost associated with storing these cells in cell banks is a major challenge faced by this market which may hamper the growth of cell banking outsourcing market. In addition, the various legal challenges associate with banking a variety of cells, especially considering stem cells banking, are expected to restrain market growth. The advanced technologically cryopreservation techniques are expected to fuel the growth of this market throughout the forecast period. In spite of that, the increase in the average life expectations due to advanced medical research and improved general lifestyle of the population and straightforward regulations for the stem cell researchers are expected to create significant potential for this market in coming few years. Increasing number of adipose tissue banking can offer various opportunities of the cell banking outsourcing market.

Global Cell Banking Outsourcing Market Regional Analysis

North America is expected to dominate the global cell banking outsourcing drug market due to the highest market share owing to the increasing number biopharmaceutical companies & manufacturers and increasing awareness for the use of stem cells as therapeutic proteins and antibiotics in this region. According to the World Health Organization (WHO), the American Cancer Society epidemiologists, at least 42% of newly diagnosed cancers in the U.S. about 729,000 cases are potentially avoidable, including 19% that are caused by smoking and 18% that are caused by a combination of excess body weight, physical inactivity, excess alcohol consumption, and poor nutrition. In addition, presence of regulatory authorities that promotes continuous R&D activities is also supplementing the market growth in North America.

The Asia Pacific is expected to witness significant growth in demand over the forecast period owing to increase in number of supportive government initiatives pertaining to investments in biotechnology sector in this region. In addition, the ongoing R&D activities for cancer treatment and fertility preservation facilitate the demand for cell banking services in this region.

Key Benefits for Global Cell Banking Outsourcing Market Report

Global Cell Banking Outsourcing Market report covers in depth historical and forecast analysis.

Global Cell Banking Outsourcing Market research report provides detail information about Market Introduction, Market Summary, Global market Revenue (Revenue USD), Market Drivers, Market Restraints, Market opportunities, Competitive Analysis, Regional and Country Level.

Global Cell Banking Outsourcing Market report helps to identify opportunities in market place.

Global Cell Banking Outsourcing Market report covers extensive analysis of emerging trends and competitive landscape.

Global Cell Banking Outsourcing Market Segmentation:

By Type:Master Cell Banking, Viral Cell Banking, Working Cell Banking

By Application:Bank Storage, Working Cell Bank Storage, Master Cell Bank Storage, Cell Storage Stability Testing, Bank Preparation, Bank Characterization & Testing

Regional & Country AnalysisNorth America, U.S., Mexico, Canada , Europe, UK, France, Germany, Italy , Asia Pacific, China, Japan, India, Southeast Asia, South America, Brazil, Argentina, Columbia, The Middle East and Africa, GCC, Africa, Rest of Middle East and Africa

Table of Content

1. Chapter Report Methodology1.1. Research Process1.2. Primary Research1.3. Secondary Research1.4. Market Size Estimates1.5. Data Triangulation1.6. Forecast Model1.7. USPs of Report1.8. Report Description

2. Chapter Global Cell Banking Outsourcing Market Overview: Qualitative Analysis2.1. Market Introduction2.2. Executive Summary2.3. Global Cell Banking Outsourcing Market Classification2.4. Market Drivers2.5. Market Restraints2.6. Market Opportunity2.7. Cell Banking Outsourcing Market: Trends2.8. Porters Five Forces Analysis2.9. Market Attractiveness Analysis

3. Chapter Global Cell Banking Outsourcing Market Overview: Quantitative Analysis

4. Chapter Global Cell Banking Outsourcing Market Analysis: Segmentation By Type

5. Chapter Global Cell Banking Outsourcing Market Analysis: Segmentation By Application

Continued.

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At 14.6% CAGR, Cell Banking Outsourcing Market 2020 Industry Analysis of Current Trends and Opportun - PharmiWeb.com

Recommendation and review posted by Bethany Smith

Each product we feature has been independently selected and reviewed by our editorial team. If you make a purchase using the links included, we may earn commission.

Each product in the TruSkin Daily Essentials Trio is loaded with nourishing ingredients to brighten and hydrate your skin. The vitamin C serum is filled with antioxidants that target dark spots and uneven texture, leaving your face feeling smooth and looking radiant. I have never used a skincare product so effective at brightening my skin tone and adding vibrancy to my complexion, one reviewer confirmed.

The face moisturizer featured in the bundle also uses vitamin C to soften your skin and lighten dark spots. Other ingredients in the moisturizer include shea butter, jojoba oil, and vitamins E and B5. When joined together in a creamy formula, these elements made my skin brighter, more supple, and with concurrent use with TruSkins Vitamin C serum, evened out my complexion, a shopper shared.

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When you purchase all three products together in the bundle, youll receive them in an organic cotton cosmetic bag and save $14 overall. Plus, if you place your order now, the skincare trio will arrive in time for Christmas. But, if you want just one or two of these fan-favorite products, you can also purchase them individually.

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TruSkin Dropped a Holiday Bundle Including Its Vitamin C Serum - InStyle

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LONDON--(BUSINESS WIRE)--Gyroscope Therapeutics Limited, a clinical-stage gene therapy company focused on diseases of the eye, today announced the company has entered a sponsored research agreement with the University of Pennsylvania and the Penn Center for Advanced Retinal and Ocular Therapeutics (CAROT) to develop gene therapies for serious eye diseases that can lead to permanent vision loss. Gyroscope has an exclusive option to the intellectual property associated with, and arising from, the research conducted under the agreement.

A team of researchers from CAROT and Gyroscope will work together to explore specific gene therapy targets for glaucoma, optic neuritis and retinitis pigmentosa. The CAROT team is led by Jean Bennett, M.D., Ph.D., the F.M. Kirby Professor of Ophthalmology, along with Ken Shindler, M.D., Ph.D., an Associate Professor of Ophthalmology and Ahmara Ross, M.D., Ph.D., an Assistant Professor of Ophthalmology, of the Perelman School of Medicine.

Too many people around the globe face a life with limited vision or complete blindness because current treatment options for many serious eye diseases are so limited, said Khurem Farooq, Chief Executive Officer, Gyroscope. Gene therapy has the potential to be a completely new way of approaching these diseases, and we are very excited to work with Jean and the team of world leaders in ophthalmic gene therapy research at the University of Pennsylvania to evaluate new targets for these conditions.

Our team is passionate about the potential of gene therapies for people with serious eye diseases, said Dr. Bennett. We are looking forward to furthering our research in glaucoma, optic neuritis and retinitis pigmentosa, which combined currently cause a devastating loss of vision for millions of people around the world.

Glaucoma is a leading cause of irreversible blindness globally. An estimated 80 million people have glaucoma worldwide, and this number is expected to increase to more than 111 million by 2040.1 There is no cure for glaucoma. If it is caught early, people with glaucoma can be treated with surgery or medication to help control the disease. Because glaucoma typically does not cause pain, it often progresses silently and is not diagnosed until the optic nerve is irreparably damaged.

Retinitis pigmentosa (RP) refers to a group of rare genetic retinal diseases that cause progressive loss of night and peripheral vision. The condition is often diagnosed in childhood or adolescence and can lead to legal, and sometimes complete, blindness. An estimated 300,000 people worldwide have RP, mainly caused by a genetic variant inherited from one or both parents.2

Optic neuritis occurs when the optic nerve is damaged as a result of inflammation. Symptoms of optic neuritis include temporary vision loss in one eye and pain with eye movement. Optic neuritis is closely associated with multiple sclerosis (MS): It is the first sign of MS in 20% of patients and occurs during the course of the disease in 50% of MS patients.3

About Gyroscope: Vision for Life

Gyroscope Therapeutics is a clinical-stage gene therapy company developing gene therapy beyond rare disease to treat diseases of the eye that cause vision loss and blindness. Our lead investigational gene therapy, GT005, is currently being evaluated in Phase II clinical trials for the treatment of geographic atrophy (GA) secondary to dry age-related macular degeneration (AMD), a leading cause of blindness. GT005 is designed to restore balance to an overactive complement system by increasing production of the Complement Factor I protein. GT005 has received Fast Track designation from the U.S. Food and Drug Administration for the treatment of people with GA.

Syncona Ltd, our lead investor, helped us create a leading gene therapy company combining discovery, research, drug development, a manufacturing platform and surgical delivery capabilities. Headquartered in London with locations in Philadelphia and San Francisco, our mission is to preserve sight and fight the devastating impact of blindness. For more information visit: http://www.gyroscopetx.com and follow us on Twitter (@GyroscopeTx) and on LinkedIn.

1 Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014 Nov;121(11):2081-90.

2 Cowen Equity Research Therapeutic Categories Outlook: Comprehensive Study. 2020 Feb;P.2334.

3 Kale N. Optic neuritis as an early sign of multiple sclerosis. Eye Brain. 2016;8:195-202.

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Gyroscope Therapeutics and the University of Pennsylvania Announce Research Agreement to Develop Gene Therapies for Serious Eye Diseases - Business...

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18 months into the first serious clinical trials of CRISPR gene therapy for sickle cell disease and beta-thalassemiaand all patients are free from symptoms and have not needed blood transfusions.

Sickle cell disease (SCD) can cause a variety of health problems including episodes of severe pain, called vaso-occlusive crises, as well as organ damage and strokes.

Patients with transfusion-dependent thalassemia (TDT) are dependent on blood transfusions from early childhood.

The only available cure for both diseases is a bone marrow transplant from a closely related donor, an option that is not available for the vast majority of patients because of difficulty locating matched donors, the cost, and the risk of complications.

In the studies, the researchers goal is to functionally cure the blood disorders using CRISPR/Cas9 gene-editing by increasing the production of fetal hemoglobin, which produces normal, healthy red blood cells as opposed to the misshapen cells produced by faulty hemoglobin in the bodies of individuals with the disorders.

The clinical trials involve collecting stem cells from the patients. Researchers edit the stem cells using CRISPR-Cas9 and infuse the gene-modified cells into the patients. Patients remain in the hospital for approximately one month following the infusion.

Prior to receiving their modified cells, the seven patients with beta thalassemia required blood transfusions approximately every three to four weeks and the three patients with SCD suffered episodes of severe pain roughly every other month.

All the individuals with beta thalassemia have been transfusion independent since receiving the treatment, a period ranging between two and 18 months.

Similarly, none of the individuals with SCD have experienced vaso-occlusive crises since CTX001 infusion. All patients showed a substantial and sustained increase in the production of fetal hemoglobin.

15 months on, and the first patient to receive the treatment for SCD, Victoria Gray, has even been on a plane for the first time.

Before receiving CRISPR gene therapy, Gray worried that the altitude change would cause an excruciating pain attack while flying. Now she no longer worries about such things.

She told NPR of her trip to Washington, D.C: It was one of those things I was waiting to get a chance to do It was exciting. I had a window. And I got to look out the window and see the clouds and everything.

MORE: MIT Researchers Believe Theyve Developed a New Treatment for Easing the Passage of Kidney Stones

This December, theNew England Journal of Medicinepublishedthe first peer-reviewed research paperfrom the studyit focuses on Gray and the first TDT patient who was treated with an infusion of billions of edited cells into their body.

There is a great need to find new therapies for beta thalassemia and sickle cell disease, saidHaydar Frangoul, MD,Medical Director of Pediatric Hematology and Oncology at Sarah Cannon Research Institute, HCA Healthcares TriStar Centennial Medical Center. What we have been able to do through this study is a tremendous achievement. By gene editing the patients own stem cells we may have the potential to make this therapy an option for many patients facing these blood diseases.

READ: For the First Time in the US, Surgeons Pump New Life into Dead Donor Heart for Life-Saving Transplant

Because of the precise way CRISPR-Cas9 gene editing works, Dr. Frangoul suggested the technique could potentially cure or ameliorate a variety of diseases that have genetic origins.

As GNN has reported, researchers are already using CRISPR to try and treat cancer, Parkinsons, heart disease, and HIV, as well.

Source: American Society of Hematology

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Every Patient Treated With CRISPR Gene Therapy for Blood Diseases Continues to Thrive, More Than a Year On - Good News Network

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When gene therapy developer Generation Bio raised $110 million in venture funding in January and then followed up six months later with a $230 million initial public offering, it was as sure asign as any that investors are stoked about the next generation of gene therapies to treat rare diseases.

Their enthusiasm hasnt waned during the year, either, despite challenges ranging from the COVID-19 pandemic delaying clinical trials to regulators pushing back some development timelines so they can gather more data on emerging gene therapies.

And as two FDA-approved gene therapies for rare diseases gain ground in the marketSpark Therapeuticss Luxturna for RPE65 mutation-associated retinal dystrophy and Novartis Zolgensma for spinal muscular atrophy (SMA)the biopharma industry is hard at work on novel approaches to correcting rare disorders caused by errant genes. The advances range from new gene-insertion methods to innovations that allow the therapies to penetrate hard-to-reach tissues in the body.

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Some, like Generation, are directly addressing one big concern that has plagued the first generation of gene therapies: Just how durable are they? Its a question BioMarin faced in August when the FDA declined to approve its hemophilia A gene therapy valoctocogene roxaparvovec after data from a trial showed that levels of factor VIII fell 12 to 18 months after patients received the gene therapy, which is designed to restore the critical blood-clotting protein.

Generations lead gene therapy candidates are designed to treat rare blood disorders hemophilia A and phenylketonuria (PKU), and theyre still in preclinical development. Whats new about the company's approachis the delivery system: Rather than using a virus to insert a gene correction, Generation Biouses an alternative technology that avoids touching off an immune responsea buildup of antibodies to the virus that would normally prevent a second round of treatment.

Generations core technology, called non-viral closed-ended DNA (ceDNA), is carried into the body by a lipid nanoparticle. The potential for the technology to sidestep the immune response thats typical with virus-based gene therapies could be important in diseases like PKU, where the gene correction needs to reach liver cells, or hepatocytes.

The newborn liver divides incredibly quickly, and as it grows, the dose of gene therapy goes down, said Geoff McDonough, M.D., CEO of Generation Bio, in an interview. We dont view that as an existential problem. Well just re-dose.

BioMarin, meanwhile, is working with the FDA to address its request for more data on valoctocogene roxaparvovec, which is an adeno-associated virus (AAV)-based gene therapybut its also looking ahead to innovations that could improve future iterations of the technology. For one thing, it'sinvestigating different capsids that that may reduce the immune response to the first dose, thus allowing re-dosing later.

But that may be only a small part of addressing a decline in response to gene therapy. We also have to understand cellular determinants of expression, because maybe re-dosing isnt actually the answer after all, said Hank Fuchs, M.D., president of research and development at BioMarin, in an interview. To that end, BioMarin is studying liver biopsy tissueto try to understand how individual characteristics may affect the fate of the transgene.

And BioMarin is working with Swiss startup Dinaqor to develop gene therapies to treat heart diseases such as hypertrophic cardiomyopathy. To accomplish that, the companies are making capsids that travel not to the liverthe destination of many gene therapiesbut to the heart. If they succeed, it could be a significant platform play for us, Fuchs said. The morbidity for hypertrophic cardiomyopathy is terrible and 60% of cases are genetic. If we can do cardiac delivery, there are other genetic diseases that could be treated with gene therapy.

In 2019, a group of executives who had pioneered SMA gene therapy Zolgensma launched Taysha Gene Therapies with an ambitious goal: They wanted to correct genetic nervous system disorders by delivering gene therapies directly to the spinal fluid. Now, backed by $125 million in private funding and a $157 million IPO, Taysha is in preclinical testing withthree gene therapies for neurodegenerative diseases.

Tayshas gene therapy for GM2 gangliosidosis, a disease that progressively destroys nerve cells, is distinctive for more than its intrathecal delivery, said CEO RA Session II in an interview.

The therapy uses a single viral vector to deliver not one, but two genes at the heart of the disorderHEXA and HEXB. Theyre linked by a self-cleaving peptide and a promoter, which allows the two genes to be expressed at a one-to-one ratio, mimicking the endogenous system of a healthy cell, Session explained in an interview.

Other gene therapy developers are targeting specific cells in the body with new technology. Encoded Therapeutics, for example, is developing a gene therapy to treat the seizure disorder Dravet syndrome. But rather than replacing the mutated SCN1A gene that causes the disorder, Encoded incorporates pieces of DNA into an AAV vector with the goal of dialing up production of the SCN1A protein thats needed to correct the disorder.

RELATED: Encoded Therapeutics bags $135M to push 'precision gene therapy' into the clinic

Passage Bio is addressing GM1 gangliosidosis using a next-generation viral vector called AAVhu68, which in preclinical trials increased the expression of a needed protein not only in targeted cells, but also in the cerebral spinal fluid. The protein is then taken up by neighboring cells, creating an effect of cross correction that the companys scientists hope will improve developmental milestones and survival in the children who have the disease, said CEO Bruce Goldsmith, Ph.D., in an interview.

In August, Passage Bios planned phase 1/2 trial was placed on a clinical hold by the FDA, which cited concerns about the delivery device planned for the trial. The company is conducting risk assessments and testing the device so it can address the agencys questions, and Goldsmith expects to maintain a close dialogue with the FDA going forward.

Infantile GM1 can occur quite early, so we want to make sure the FDA is a collaborator on defining what developmental scales will be appropriate for measuring outcomes. That means not only primary outcomes but also durabilitywhat theyre looking for in terms of meaningful outcomes, he said. U.K. regulators gave their go-ahead for a clinical trial of the therapy in December.

Improving cross-correction in gene therapy is also a priority for Avrobio, which is developing gene therapies for several rare diseases, including Hunter syndrome and Fabry disease. Its technology platform, called plato, consists of a lentiviral vector and tags that help the therapeutic proteins reach the target cells lysosomesthe organelles inside of cells that orchestrate vital processes in the body.

In diseases like Fabry, all thats needed is cross-correction, where the enzyme in circulation is taken up by the cells and creates a profound effect, correcting a deficiency that causes organ damage, said CEO Geoff MacKay in an interview.The tags aid the uptake of a therapeutic protein. Its like a first-class ticket to the target tissues, like muscles and the central nervous system."

In November, Avrobio announced that in phase 1 and 2 trials of its Fabry genetherapy, the response lasted up to 3.5 years.

RELATED: Avrobio tracks improvements in first patient treated with Gaucher gene therapy

LogicBio Therapeutics approach to moving gene therapy into the future is to harness the power of genome editing.

The companys technology, GeneRide, uses strands of DNA to deliver a functioning copy of a faulty gene into cells nuclei, prompting natural DNA repair mechanisms to insert the good gene exactly where it belongs in the chromosome. The therapeutic gene becomes part of that celland of its daughter cells when it dividespotentially preventing a dilution of effect over time that can occur with other gene therapies.

LogicBios lead program, LB-001 to treat the liver disorder methylmalonic acidemia in children age 3 and older, was hit with a delay in February, when the FDA put a hold on the planned clinical trial so the company could address safety-monitoring concerns.

So LogicBio built in a protocol for caregivers to monitor post-treatment safety at home, and it added survival as a secondary endpoint, said LogicBios chief operating officer Kyle Chiang, Ph.D., in an interview. The company hopes to dose the first patient in the trial in early 2021.

BioMarins Fuchs predicts that each new development in gene therapy will raise more questions for the FDAbut that the delays wont prevent the advances from benefiting patients.

As regulators, its not in their DNA to take risks, Fuchs said. But the quest for gene therapy approvals, he added, will continue to go well, as regulators get more familiar with the technology and developers generate more and more data.

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The next generation of gene therapy for rare diseases forges ahead as developers weather hurdles - FierceBiotech

Recommendation and review posted by Bethany Smith

Round was led by Sofinnova Investments with participation from Abingworth, Lightstone Ventures and all existing investors

Company expands board of directors and plans to build out team

DURHAM, N.C. and BOSTON, Dec. 16, 2020 (GLOBE NEWSWIRE) -- Atsena Therapeutics, a clinical-stage gene therapy company focused on bringing the life-changing power of genetic medicine to reverse or prevent blindness, today announced it has closed an oversubscribed $55 million Series A financing led by Sofinnova Investments with participation from additional new investors Abingworth and Lightstone Ventures. Founding investors Hatteras Venture Partners and the Foundation Fighting Blindness RD Fund, along with existing investors Osage University Partners, University of Florida, and Manning Family Foundation, also participated in the round. Sarah Bhagat, PhD, Partner at Sofinnova, Jackie Grant, PhD, Principal at Abingworth, and Jason Lettmann, General Partner at Lightstone, will join Atsenas board of directors.

Proceeds will be used to advance Atsenas ongoing Phase I/II clinical trial evaluating a gene therapy for patients with GUCY2D-associated Leber congenital amaurosis (LCA1), one of the most common causes of blindness in children, as well as complete manufacturing development for Phase 3. In addition, the funds will enable Atsena to expand its team to support the research and development of novel gene therapies, including the progression of two existing preclinical programs in inherited retinal diseases toward the clinic and advancement of the companys innovative adeno-associated virus (AAV) technology platform.

We are grateful for the support of our new and existing investors and are encouraged by their enthusiasm for the potential of our technology to overcome the unique hurdles of inherited retinal diseases to prevent or reverse blindness, said Patrick Ritschel, MBA, Chief Executive Officer of Atsena. The Series A financing provides financial runway to reach the key inflection point of reading out efficacy data from our LCA1 clinical trial. While we continue expeditiously advancing this trial and our preclinical programs, we are excited to accelerate our growth as a leading ophthalmic gene therapy company.

The Phase I/II LCA1 clinical trial is currently enrolling patients in the second dosing cohort. Atsena exclusively licensed the rights to the gene therapy from Sanofi, which originally licensed it from University of Florida. LCA is the most common cause of blindness in children. LCA1 is caused by mutations in the GUCY2D gene and results in early and severe vision impairment or blindness. GUCY2D-LCA1 is one of the most common forms of LCA, affecting roughly 20 percent of patients who live with this inherited retinal disease.

We believe Atsenas foundation in ocular gene therapy and potentially game-changing novel AAV vectors position the company to become a partner of choice, said Dr. Bhagat. Sofinnova is delighted to support Atsena and we look forward to helping the team further its mission to develop life-changing gene therapies for patients with inherited retinal diseases.

About Atsena TherapeuticsAtsena Therapeutics is a clinical-stage gene therapy company developing novel treatments for inherited forms of blindness. The companys ongoing Phase I/II clinical trial is evaluating a potential therapy for one of the most common causes of blindness in children. Its additional pipeline of leading preclinical assets is powered by an adeno-associated virus (AAV) technology platform tailored to overcome significant hurdles presented by inherited retinal disease, and its unique approach is guided by the specific needs of each patient condition to optimize treatment. Founded by ocular gene therapy pioneers Dr. Shannon Boye and Sanford Boye, Atsena has a licensing, research and manufacturing collaboration with the University of Florida and has offices in Boston, MA and North Carolinas Research Triangle, environments rich in gene therapy expertise. For more information, please visit atsenatx.com.

About Sofinnova InvestmentsSince our founding in 1974, Sofinnova has been active in life science investing. We are a clinical-stage biopharmaceutical investment firm with approximately $2.3B in assets under management and committed capital. We invest in both private and public equity of therapeutics-focused companies. Our goal is to actively partner with entrepreneurs in both the U.S. and Europe, across all stages of company formation. From drug development and navigating the regulatory process to company building and IPO, we strive to be collaborative, meaningful board members, and excellent partners at every level. We seek to build world class companies that aspire to dramatically improve the current state of medical care today and ultimately, the lives of patients. Sofinnova has expertise investing in gene therapy companies, including investments in Spark, which developed the first approved gene therapy, Akouos, and Audentes, and Xylocor. For more information, please visit http://www.sofinnova.com.

About Abingworth Abingworth is a leading transatlantic life sciences investment firm. Abingworth helps transform cutting-edge science into novel medicines by providing capital and expertise to top caliber management teams building world-class companies. Since 1973, Abingworth has invested in approximately 168 life science companies, leading to more than 44 M&A/exits and close to 70 IPOs. Our therapeutic focused investments fall into 3 categories: seed and early-stage, development stage, and clinical co-development. Abingworth supports its portfolio companies with a team of experienced professionals at offices in London, Menlo Park (California) and Boston. For more information, visit abingworth.com.

About Lightstone VenturesLightstone Ventures is a leading venture capital firm investing in therapeutic-oriented companies across the life science spectrum, from breakthrough medical devices to novel drugs and biopharmaceuticals. Founded in 2012, Lightstone has been part of many successful new ventures from inception through commercialization and plays a critical role guiding and building successful healthcare companies. With a proven strategy and global footprint, the Lightstone team has been involved in several of the largest venture-backed life science exits over the last decade including: ALX Oncology, Acceleron, Ardian, Calithera, Claret Medical, Disarm, MicroVention, Nimbus, Plexxikon, Portola, Promedior, Proteolix, Ra Pharma, Tizona, Twelve and Zeltiq. For more information, visithttps://www.lightstonevc.com.

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Atsena Therapeutics Raises $55 Million Series A Financing to Advance LCA1 Gene Therapy Clinical Program, Two Preclinical Assets, and Novel Capsid...

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