Sex chromosome, either of a pair of chromosomes that determine whether an individual is male or female. The sex chromosomes of human beings and other mammals are designated by scientists as X and Y. In humans the sex chromosomes comprise one pair of the total of 23 pairs of chromosomes. The other 22 pairs of chromosomes are called autosomes.

Individuals having two X chromosomes (XX) are female; individuals having one X chromosome and one Y chromosome (XY) are male. The X chromosome resembles a large autosomal chromosome with a long and a short arm. The Y chromosome has one long arm and a very short second arm. This path to maleness or femaleness originates at the moment of meiosis, when a cell divides to produce gametes, or sex cells having half the normal number of chromosomes. During meiosis the male XY sex-chromosome pair separates and passes on an X or a Y to separate gametes; the result is that one-half of the gametes (sperm) that are formed contains the X chromosome and the other half contains the Y chromosome. The female has two X chromosomes, and all female egg cells normally carry a single X. The eggs fertilized by X-bearing sperm become females (XX), whereas those fertilized by Y-bearing sperm become males (XY).

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sex: Sex chromosomes

In most species of animals the sex of individuals is determined decisively at the time of fertilization of the egg, by means of chromosomal distribution. This process is the most clear-cut form of sex determination. When any cell in the body divides, except during the formation of the sex cells, each daughter cell receives the full complement of chromosomes; i.e., copies of the two sets...

Unlike the paired autosomes, in which each member normally carries alleles (forms) of the same genes, the paired sex chromosomes do not carry an identical complement of genetic information. The X chromosome, being larger, carries many more genes than does the Y. Traits controlled by genes found only on the X chromosome are said to be sex-linked (see linkage group). Recessive sex-linked traits, such as hemophilia and redgreen colour blindness, occur far more frequently in men than in women. This is because the male who inherits the recessive allele on his X chromosome has no allele on his Y chromosome to counteract its effects. The female, on the other hand, must inherit the recessive allele on both of her X chromosomes in order to fully display the trait. A woman who inherits the recessive allele for a sex-linked disorder on one of her X chromosomes may, however, show a limited expression of the trait. The reason for this is that, in each somatic cell of a normal female, one of the X chromosomes is randomly deactivated. This deactivated X chromosome can be seen as a small, dark-staining structurethe Barr bodyin the cell nucleus.

The effects of genes carried only on the Y chromosome are, of course, expressed only in males. Most of these genes are the so-called maleness determiners, which are necessary for development of the testes in the fetus.

Several disorders are known to be associated with abnormal numbers of sex chromosomes. Turners syndrome and Klinefelters syndrome are among the most common of these. See also X trisomy; XYY-trisomy.

sex chromosome disorder of human females, in which three X chromosomes are present, rather than the normal pair. More common than Turners syndrome, where only one X chromosome is present, X-trisomy usually remains undetected because affected individuals appear normal, experience puberty,...

relatively common human sex chromosome anomaly in which a male has two Y chromosomes rather than one. It occurs in 1 in 5001,000 live male births, and individuals with the anomaly are often characterized by tallness and severe acne and sometimes by skeletal malformations and mental...

the sum of features by which members of species can be divided into two groupsmale and femalethat complement each other reproductively.

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sex chromosome | genetics | Britannica.com

Recommendation and review posted by simmons

A Lipizzan stallion named Conversano Sessana, born in 2001.The Y sequence that is needed as a template to detect variants in any horse is generated from a stallion of this breed. Spanische Hofreitschule Wien

A group of researchers led by Barbara Wallner of the Institute of Animal Breeding and Genetics in Vienna, Austria sampled the genes of 52 modern horses representing 21 different breeds for their study. They included the famous white dancing Lipizzaners, quarter horses, cobs, Thoroughbreds and Arabians.

The team focused on the male specific

The findings were startling. Most of the horses in common use descend from just two lineages, the Arabian lineage from the Arabian Peninsula and the Turkoman lineage from the steppes of Central Asia, also widely known as "Oriental" among horse breeders, as reported in the Journal of Current Biology.

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"Apart from stallion lines in Northern European breeds, all stallion lines detected in other modern breeds derive from more recently introduced Oriental ancestors," Wallner said.

Its not surprising that a few studs would have a large number of progeny. Females can have one or two foals a year, while males can sire many.

It seems medieval horse breeders made great use of a few very strong specimens, Wallner said, breeding them with local mares.

The qualities they were looking for are still the same qualities people still admire today.

They wanted them because they were beautiful. They wanted them to be faster and stronger and lighter, Wallner told NBC News.

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Theres plenty of history about horse breeding and its no secret that Arabian stallions were desired and shipped long distances for breeding.

Of particular importance was the trend to import stallions from foreign studs to improve local herds. In central Europe, this practice started in the 16th century with the popularity of Spanish and Neapolitan stallions. Until the end of the 18th century, the Central European horse population was shaped by the introduction of Oriental stallions, they wrote.

A person riding a Lipizzan stallion. They perform in the Spanish Riding School in Vienna. Spanische Hofreitschule Wien

Wallners study shows just how few male lines ended up surviving the process.

Other research has looked at mitochondrial DNA, which females pass down virtually unchanged to their children. This collection of DNA is particularly diverse in horses, demonstrating that many, many mares are ancestors of modern horses.

Now Wallner wants to collect DNA from the remains of ancient horses to see if she can determine when wild horse were first domesticated, and where.

Similar recent studies have shown the surprising

More here:
Horse Tale: Oriental Stallions Dominate Horse DNA, Gene Study Shows - NBCNews.com

Recommendation and review posted by simmons

If a dangerously inbred puma population in Southern California is to survive in the future, an urgent need for genetic connectivity must be met, according to two scientific papers from a team of researchers coordinated by UC Davis and involving scientists at the University of Wyoming and the University of Massachusetts-Amherst.

The first paper, published in the journal Royal Society Open Science in May, reports that the puma population of about 20 adults in the Santa Ana Mountains has the lowest genetic diversity ever reported for pumas besides the Florida panther, which nearly went extinct from genetic causes. Read the journal report at http://bit.ly/2sew1LT.

The pumas isolation is primarily due to surrounding urbanization from Los Angeles and San Diego.

The only hope for puma movements in and out of the Santa Ana Mountains is to cross I-15 an eight- to 10-lane interstate highway which poses a major barrier for pumas attempting to migrate between the Santa Ana Mountains and the rural Eastern Peninsular Mountains, said lead author Kyle Gustafson, a postdoctoral conservation geneticist from the University of Wyoming.

University of Wyoming researchers conducted genetic analyses of both radio-collared and uncollared pumas to develop a multigeneration pedigree. This showed where pumas and their offspring were born, and whether they successfully migrated and reproduced after crossing I-15, which separates the Santa Ana Mountains from other mountain ranges to the east.

The power of one Although seven males crossed I-15 over the past 20 years, only one male puma #86 (M86) was able to successfully produce offspring in the Santa Anas after migrating from the genetically diverse population to the east. By producing a total of 11 detected offspring, M86 rapidly disseminated unique genes into the inbred population, which reduced the level of inbreeding and significantly increased genetic diversity.

Unfortunately, M86 was hit by a car between 2014 and 2015, and more than half of his offspring are either now deceased or in captivity.

This is consistent with mortality rates we found previously in the region, said Winston Vickers, a wildlife veterinarian from UCDs Karen C. Drayer Wildlife Health Center who conducted most of the field research. Only one other migrant, named M119, remains in the Santa Ana Mountains, but whether he is alive or produced offspring is uncertain.

Senior author Holly Ernest, a wildlife population geneticist and research veterinarian at the University of Wyoming, said that by introducing new genetic material and raising the level of genetic diversity in this population, that single male mountain lion, M86, performed what amounts to a genetic rescue.

Our study also shows how quickly his genetics were lost by high mortality levels of his offspring, Ernest said. A message here is that this population needs help to regain healthy genetics and persist in the Southern California landscape. That help can come in the form of just a few individuals over time adding new blood to the population.

Connectivity is key The second paper, published in June in the journal PLOS ONE, provides a potential solution to this issue. In it, the researchers propose a conservation network for pumas spanning the Santa Ana Mountains and the Eastern Peninsular Mountains. Read the journal report at http://bit.ly/2rYuYv3.

Using genetic data and data from GPS radio-collared pumas, this analysis identified critical habitat patches, movement corridors, and key road crossing locations across I-15 that would allow pumas to persist and increase genetic diversity.

Without continued emigration into the Santa Ana Mountains by pumas coming from the east of I-15, eroding genetic diversity and continued inbreeding are expected to resume, said veterinarian Walter Boyce, co-director of the Wildlife Health Centers Southern California Mountain Lion Study with Vickers.

UC Davis News

Link:
So Cal mountain lions' low genetic diversity threatens population - Davis Enterprise

Recommendation and review posted by sam

The biological differences between men and women can affect the way they react to certain drugs and treatments, according to a new study in Nature Communications. If this sounds like a no brainer, you probably haven't looked at many biomedical studies. As PopSci noted earlier this year, biomedical researchers experiment almost exclusively on male animal subjects. A 2011 study found that animals in medical research are up to five times more likely to be male than female.

That's a problem, because what happens in men is not necessarily a template for what happens in the whole population. Results in rodents are already difficult to translate to potential outcomes in humans, but leaving female animals out of the mix could make for even less predictable reactions. The new study indicates that sex has an impact on 56.6 percent of quantitative traits (things like bone density) and roughly 10 percent of qualitative traits (like whether or not a mouses head was shaped normally). All of which makes sense. We know that certain diseaseslupus and urinary tract infections, for exampleare more prevalent in human women than in men. Other diseases, like heart disease, have different qualities depending on sex. The protective effects of estrogen on the cardiovascular system mean that biologically female patients tend to develop heart disease later in life than male patients, for example. As estrogen declines with menopause, the likelihood of heart disease increases.

While its long been known that this blind spot exists in the scientific world, the actual impact on results has been less clear. The new study aims to quantify the differences between male and female study subjects, known as sexual dimorphism. The team analyzed up to 234 physical characteristics in more than 60,000 mice14,250 wildtype animals, or animals as they typically occur in nature, and 40,192 mutant mice from 2,186 single gene knockout lines. Knockout mice have been genetically engineered, with researchers making a single gene inactive to show what role it plays. The 40,192 mice had a total of 2,186 genes knocked out (though no more than one single gene was knocked out per mouse).

As it turned out, sex altered the mutation effects by 17.7 percent in quantitative traits, and 13.3 percent in qualitative traits. And in some cases, the only way to discover the difference was to study both sexes. So while gene therapies may hold promise for treating and curing human disease, a sex bias in rodent trials could mean that biological men benefit much more from these advances than their female counterparts.

The researchers are simply working to confirm something that an increasing number of scientists acknowledge: sex matters. People who menstruate, can potentially have children, have organs that biological males do not, and metabolize drugs differently can have drastically different responses to all manner of medical interventions. In fact, medications are most likely to be pulled off the market because of adverse reactions in womensomething that could easily be avoided if drug manufacturers were equally rigorous in testing drugs for both sexes.

When female subjects are included in studies, they tend to be tested (as PopSci noted in our recent article on sunscreen) when they are at their most "male-like", biologically speakingeither when they're menopausal or in the period before ovulation and menstruation. Researchers say that doing so makes their experiments simpler, because hormonal cycles add too many variables to the mix. The fact that this fails to account for the conditions under which many patients will actually take these medications is apparently inconsequential.

Its been just under 27 years since the National Institutes of Health created the Office of Research on Womens Health as a step to overcome the systemic exclusion of women from biomedical studies. Their worry was that clinical decisions in healthcare were being made for everyone based only on findings from studies conducted on male subjects. For over two decades, the National Institutes of Health has required that clinical trialsthe last step before drugs make it to marketinclude women. While the number of women in clinical trials has increased, from nine percent in 1970 to 41 percent in 2006, women are still underrepresented in clinical trials and, as this new study makes clear, woefully underrepresented in animal trials.

"This study illustrates how often sex differences occur in traits that we would otherwise assume to be the same in males and females, says study author Judith Manka, a geneticist at University College London. More importantly, the fact that a mouse's sex influenced the effects of genetic modification indicates that males and females differ right down to the underlying genetics behind many traits. This means that only studying males paints half the picture."

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Scientific studies favor male miceand that could hurt a lot of humans - Popular Science

Recommendation and review posted by Bethany Smith

The Hindu

A ray of hope for autistic children The Hindu Dr. Gokulchandran said a number of autistic children from AP visit the hospital for the therapy that involves collecting stem cells from the patient's bone marrow and injecting them into the spinal fluid to regenerate the inactive part of the brain ... and more »

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A ray of hope for autistic children - The Hindu

Recommendation and review posted by simmons

LUCY Clarke was facing a downhill spiral when she flew to Russia to undergo a cutting edge stem cell transplant.

Two years on she says the procedure not only halted her illness in its tracks, but reversed much of the damage inflicted by multiple sclerosis.

The 41-year-old from Inverness is now backing crowdfunding efforts so that her friend and neighbour, Rona Tynan, can receive the same life-changing operation in Mexico before she becomes too ill to qualify.

Mrs Tynan, 50, has until the end of August to raise the 60,000 needed.

However, both are angry at a cross-border divide which means that a small number of MS patients in England can undergo the treatment for free on the NHS, while in Scotland despite having some of the highest rates of MS in the world the health service has refused patients' funding and no clinical trials are planned.

Mrs Clarke, a chemistry graduate and acupuncturist, began investigating AHSCT (autologous haematopoietic stem cell transplantation) in 2014 after her condition progressed from relapsing-remitting to secondary progressive MS. At the time her son was three and she feared ending up in a wheelchair.

Although the treatment has been available overseas for decades, it has never been routinely available on the NHS and is considered unproven by many neurologists.

It is also a highly aggressive therapy, using intensive chemotherapy to strip out sufferers faulty immune systems before replenishing it with stem cells harvested from their own bone marrow or donor tissue. Despite the risks, many patients including Mrs Clarke credit it with transforming their lives.

She underwent the procedure in Moscow over a period of four weeks in April and May 2015. She said: From when my son was three to when I had the transplant, my walking had deteriorated, I needed to use a walking stick all the time, I had very poor balance, debilitating fatigue, I had brain fog, I used to slur my words.

"Im left-handed and my left hand was really weak so my writing was bad. Other things would come and go numbness in my legs, tingling, cramps in my calves, sore and painful legs. The majority of them have gone since the transplant.

I noticed quite quick improvements in things like balance. The biggest thing is not really having fatigue, and the brain fog completely went. I stopped slurring my words quite quickly after treatment. I was more alert. I had more concentration, more focus. Within six months the shaking in my left arm had gone. Ive still got drop foot in my right leg and I still use a walking stick, but once youve got to the stage of secondary progressive it all gets a bit scary. Things are going downhill and youre told theres nothing that can be done, so really my goal from treatment was just to halt the progression to know I wasnt getting any worse. Thankfully, and luckily, I have seen lots of benefits.

Eighteen months on, MRI brain scans show no signs of disease progression and while Mrs Clarke stresses that the treatment is neither a magic bullet nor a walk in the park, she is supporting Rona Tynans bid to undergo the same surgery in October.

Mrs Tynan, a retired Metropolitan police sergeant and mother-of-two from Inverness, also has secondary progressive MS. She is already in a wheelchair and fears that unless she undergoes the treatment soon she will become too ill. She said: Im a 7.5 out of 10 on the disease progression scale, where 10 is death. Most clinics stop taking you at seven, but Mexico just raised it to 8.5. Thats brilliant for people like myself, but I cant afford to get any more ill.

So far, Mrs Tynans fundraising page on JustGiving has raised nearly 4000, but she is frustrated that more is not being done to help Scottish patients. In England, clinical trials are ongoing in London and Sheffield but a small number of patients with relapsing-remitting MS can be referred for the treatment off-trial, for free, on the NHS. In Scotland, however, eligible patients have been turned down for NHS funding.

Mrs Tynan said: It seems crazy to me that Brits are going to Chicago and Mexico and Russia for a treatment that in the long-run could save the NHS loads of money. Scotland is one of the worst places in the world for MS yet in England you can get this treatment for free. Why arent we fighting in Scotland to get this?

Mrs Clarke added: Its very unfair. It just seems a no brainer to me why they wouldnt make it available not for all patients but for some. The Scottish Government said referral decisions were "for clinicians".

A spokesman said: "Whilst the vast majority of healthcare provided by NHS Scotland is delivered in Scotland, NHS boards can commission treatment in other countries on an ad hoc basis, particularly where highly specialised treatment is involved. Decisions to refer patients are for clinicians, based on agreed guidelines, which ensure best practice, equity of access and consistency of treatment for all patients.

"HSCT is not currently widely available anywhere on the NHS, but people from Scotland can participate in trials held in other centres across the UK, where clinically determined appropriate and beneficial."

Originally posted here:
Anger as Scots patients miss out on 'breakthrough' stem cell therapy offered by NHS England - Herald Scotland

Recommendation and review posted by Bethany Smith

By Rose Cahalan in Features, July | August 2017 on July 1, 2017 at 9:00 am |

From left, Jenny, Tanner, Clara, and Ryan Bragg. Credit: Tiffany Roach

In the video, Clara Bragg and her mom, Jenny, are sitting underneath the family Christmas tree.

Clara, 2, wears a pink bow in her wispy blonde hair. She smiles before turning to play with a pile of colored blocks, her mouth hanging open in concentration. Its an idyllic family scene, complete with Claras brother, Tanner, 5, sitting next to her under the warm glow of the tree. Then in the next scene, the whole family is seated together on the couch, Jenny with a squirming Clara on her lap while her husband, Ryan, MBA 10, holds Tanner on his knee. Hello, he says, looking into the camera. My name is Ryan Bragg, and this is my family.

By now, the Braggs are used to introducing themselves to the world. Theirs is a story theyve told hundreds of timesin YouTube videos like this one, on the local news, on websites and Facebook posts and forums, and at dinners, parties, and fundraisers. Its not an easy story to tell, but after eight months of practice, they are pros. So they dont hesitate when theyre asked to tell it one more time.

Clara was born in April 2014, and the Braggs were over the moon, according to Jenny, BS 03. Theyd always wanted a boy and a girl, and her arrival made their family feel complete. She was an energetic baby with lots of personality. She was constantly moving, Jenny says. Always wiggling, always wanting to be in the mix. A very social kid. She hit all her developmental milestones, including saying mama and dada. But then, around 14 months, she stopped saying them. She also couldnt quite get the hang of walking and often fell.

The Braggs started to wonder if something was wrong. Clara had always been tall for her age; maybe her balance just hadnt caught up to her height. They took her to doctors and physical therapists near their home outside Birmingham, Alabama. Each test and exam led to more referrals, shrugs, and vague reassurances. We saw more specialists than I can count, Ryan says, and every single one of them said a different version of the same thing. Yeah, there are some delays, but its not a big deal. Either shell outgrow it, or well handle it with therapy.

After a year of these appointments, the Braggs enrolled Clara in a study that involved a full genetic workup. A genetic counselor and a geneticist called them in for a meeting to discuss the results. They were pretty direct about it, Jenny remembers. He told us what was going to slowly happen, and that she probably wouldnt

She pauses, and theres a long silence before Ryan starts talking. The geneticist told them that Clara had a disease called GM1 gangliosidosis that would cause her to slowly lose her ability to walk, talk, and eat; to suffer breathing difficulties, seizures, deafness, and blindness; and eventually, to die before her 10th birthday. And, Oh, by the way, just go home and watch that happen because you probably only have a few years left, Ryan says. It hits you like a ton of bricks. Theres no escaping the devastation and the lump in your throat and the knots in your stomach.

The genetic counselor handed them a three-page printout with more information. They learned that GM1 is extremely rare, affecting 1 in 200,000 children, and that there is no cure. It was pretty obvious that theyd done the medical equivalent of Googling this thing, Ryan says.

Which is exactly what the Braggs did when they got home. They found medical journals and forums and websites and pictures of kids transforming from smiling babies into bedridden toddlers with breathing tubes. They also came across the website of Doug Martin, a research scientist and professor at Auburn Universitys College of Veterinary Medicine, who studies GM1 and related neurodegenerative diseases. Ryan fired off an email. We are just beginning to learn about and try to understand this disease, but have learned of the research you and your team have done Would it be possible to meet? he wrote. This is quite a shock to us and were starting from scratch.

***

On the first and second floors of the Scott-Ritchey Research Center at Auburn University in Auburn, Alabama, there are more than 100 cats. As research animals go, they live a comfortable life: A full-time staffer is dedicated to their care, playing with them and making sure they get enough exercise. They nestle into towel-lined boxes, scamper up to high perches, and bat at toy mice with their paws.

Back in 2003, this scene looked very different. As kittens, the lab cats developed minor tremors that soon progressed into full-body shakes. Soon they couldnt stand or walk; an employee had to lift them into the litter box. These cats were born with GM1, and gene therapy saved their lives.

The results have been tremendous, Martin says. They arent completely normal, but if I put them in a room with a bunch of normal cats, it would be hard for you to pick them out. They have only a slight hind-limb weakness.

Before Martins team injected an engineered virus directly into the cats brains, their life expectancy was 8 months. Now some cats in the colony are 7 years old. The average survival increase is six times, which is really unheard of, he says.

GM1 falls within a category of rare diseases known as lysosomal storage diseases. Lysosomes are the digestive system of the bodys cellssacs of enzymes that break down molecules and send them elsewhere in the body for recycling. Kids (and cats) with GM1 dont make enough of a critical enzyme, and without it, the recycling process comes to a halt. That leads a protein called GM1 ganglioside to build up to toxic levels in the brain and other parts of the body.

The earlier GM1 strikes, the more severe it is. Clara was diagnosed with Type 2, the late infantile type. Most kids with that variant of the disease die before they finish elementary school.

Researchers at Auburn have been studying GM1 for more than 30 years. Martins predecessor and graduate school mentor, Henry Baker, kept the cat colony in his garage as he experimented with treatments, such as injecting the missing enzyme. Baker eventually succeeded in treating the cats peripheral organs, but he couldnt get past the blood-brain barriera security system of sorts that protects the brain from foreign invaders. After decades of work, Martin and his colleagues have overcome that obstacle by engineering a virus that can pass through the barrier. An injection directly into the brain is no longer requireda simple one-time IV dose will do the trick. Once the virus is in the body, it starts churning out the enzyme that kids like Clara need, Martin says.

***

On a Saturday afternoon in August, Martin was at home when he saw Ryan Braggs email. It was only the latest of dozens of desperate messages hes received from parents over the years. Now that were closer to a clinical trial, I hear from parents every couple of weeks, Martin says. The Braggs were the second GM1 family hed met in Alabama. A year earlier, Martin had gotten to know Porter Heatherly, a toddler with the most severe type of the disease. I had never watched a child deteriorate on a monthly or weekly basis the way I did with Porter, he says. Heatherly died in November 2016.

Martin called the Braggs back within a half-hour. Awe and respect are audible in Ryans voice as he recalls the conversation. I was impressed that he called at all, Ryan says. Hes a busy guy at a top university. He called to offer his condolences and to give us a glimmer of hope. In the coming months, they would meet Martin and visit his lab.

The Braggs learned that Claras diagnosis had come at a fortuitous time. Martin was already close to setting up a clinical trial in humans. After decades of working on the science, he felt confident in the gene therapys potential to help kids as it had cats. Now the biggest barriers were bureaucracy and funding.

GM1 is one of more than 7,000 rare diseases affecting at least 25 million Americans. More than half of rare disease patients are children, and 80 percent of rare diseases are genetic. In the medical community, these are sometimes called orphan diseases for their lack of funding and attention. With many of these conditions affecting maybe a few dozen people or fewer, there just cant be enough funding from traditional sources, says Mary Dunkle, vice president of educational initiatives for the National Organization for Rare Disorders. In many cases, most or even all of the research funding is raised by the patient community.

In the case of GM1, the most costly part of a clinical trial would be manufacturing the virus for the gene therapy. A much larger quantity of the virus is needed for a human trial than in animals, and scaling it up isnt cheap. Martin estimated the total manufacturing cost at $750,000.

That was all the Braggs needed to hear. They set out to raise as much money as they could as quickly as possible. In order to be eligible for the trial, Clara would still need to be fairly early on in her disease progression. The clock was ticking.

Theres something unimaginably cruel about busy working parents, still reeling from traumatic news, having to take on what amounts to a second full-time jobbut the Braggs felt they didnt have a choice. They threw themselves into their new roles as GM1 advocates and fundraisers. In a sense, they were as well-prepared as anyone could be. Jenny studied corporate communications at UT, so messaging and social media marketing were familiar territory. Shed planned events in her former job at the Texas General Land Office, experience that would come in handy for the dozens of fundraisers ahead. Ryans MBA from McCombs taught him how to tap into his network and hit financial goals. Jenny quit her job to focus on caring for Clara and fundraising, while Ryan juggled work as a finance director at PepsiCo with the second shift at home.

Jenny rattles off a litany of tactics. Weve had a fashion show, a movie theater event, all kinds of dinners, silent auctions, raffles, a St. Patricks Day campaign called Buck for Luck, she says. We did charity beers, a wiffle ball tournament, a daddy-daughter dance, and a crawfish boil. The whole spectrum, really. The A Cure for Clara Facebook page has more than 1,300 likes.

Credit: Magen Davis

Their work has paid off. In less than a year, the Braggs have raised more than $1 million for GM1 research. Those funds have directly contributed to making a clinical trial possible. Theyve knocked it out of the park, Martin says. Ryan and Jenny are amazing. For me, its been so great to not have to worry about funding as much. Its enabled me to focus on the science.

It takes six months to make the viral vector for the clinical trial, and that process cant begin until the scientists have shown they can pay for it. With a typical National Institutes of Health grant taking 18 months to get funded, Martin says the trial process would be months and months behind without the Braggs donation. Now things are well underway, and the researchers are hoping the trial will take place in December 2017 or January 2018.

At the end of my conversation with the Braggs, I ask if theres anything other stories have gotten wrong. Everyone feels compelled to say were searching for a cure, Jenny says. But its such a key component to our campaign that were actually trying to fund the cure, not find the cure. Weve already found it.

***

Is that really true, though? While the cat research is promising, there is no guarantee that animal results will translate directly to humans, and many questions about the disease remain unanswered. Martin is more measured. Cure is a really strong word, he says. I feel very strongly that our work will benefit the human patients. That said, until you actually try it, you just dont know for sure. He adds, I know that the parents are desperate. The pressure we feel is enormous.

One important unknown: whether the gene therapy in the trial will reverse symptoms or only halt the diseases progression. The results of animal studies have been mixed on that front, Martin says. Im hopeful there will be some recovery of function, he says, but nobody knows the answer at this point.

If the clinical trial has outstanding results, its possible the FDA will broaden it to include more patients. Should all go well, parents may then petition the agency to release the treatment under a provision called compassionate use. Also called right-to-try, compassionate use gives terminally ill patients access to new and experimental drugs. This legal loophole has saved lives, but its not without risks.

In 2014, the family of Josh Hardy, a 7-year-old cancer patient, ran a successful social media campaign to get him a drug through compassionate use. Media coverage at the time attacked the pharmaceutical company, Chimerix, for withholding the medicine. Eventually the company and the FDA relented, and the Chimerix CEO was fired. The drug saved Hardys life. But what if it hadnt? Had Hardy died after taking the drug, it would have been banned. That could potentially result in the deaths of innumerable future patients, bioethicists argued at the time, and we have an ethical responsibility to them, too. (Hardy died two years later of complications from his cancer.)

In a critical op-ed for nbcnews.com, NYU medical ethicist Arthur Caplan argued that Hardys campaign went viral because he was a cute and cuddly childmuch like Clara, with her blond curls and cherubic smile. His parents, like the Braggs, are privileged, well-connected, and media-savvy. What about patients who lack those advantages? Another ethicist, George Annas, told Harpers that this whole community going-on-a-vengeance thing is not a decent way to get health care for your child.

Then theres the name forever on the minds of Martin and all gene therapy researchers: Jesse Gelsinger. Gelsinger died at age 18 during a botched gene therapy trial at the University of Pennsylvania in 1999. That was a tragedy, and it shut down our field for years, Martin says. We want to give these kids a chance, but we also dont want to do anything that could shut down a promising field. The FDA is always slowing us down, and although that can be very frustratingultimately, its a good thing. (Martin stresses that gene therapy has advanced significantly since 1999, and that the type of therapy used in the GM1 trial is as safe as it gets.)

Theres one final hurdle: drug pricing. Even if the trial goes well and the therapy is eventually approved, drugs for rare diseases tend to be extremely expensive. Thats because pharmaceutical companies are profit-driven, and its hard to turn a profit if your market consists of only a few dozen patients. The Orphan Drug Act of 1983 gave companies a financial incentive to make drugs for rare diseases, but prices have ballooned out of control: In 2014, the average orphan drug cost $118,820 per patient per year. That means families campaigning may not end even once theyve found and funded the cure. In 2016, the FDA approved a new drug for spinal muscular atrophy, another progressive and often fatal genetic disease in childrenbut it costs $750,000 a year, and insurance companies dont always cover it. Dozens of pleading GoFundMe pages have popped up.

Long-term, there absolutely needs to be a comprehensive look at reform for both the pricing and access issues, says Dunkle, the rare diseases advocate. Social media is powerful. It levels the playing field, gives families with rare diseases a way to make their voices heard. But sick kids shouldnt have to rely on Facebook to get life-saving care.

***

In April, the Braggs are gearing up for one of their biggest events yet: Claras third birthday party. The fundraising goal is $10,000; there will be VIP sponsors, a silent auction, live music, and cake with pink frosting. The next month, theyre planning a Zumba fun-raiser. Talking about their work, Ryan and Jenny sound hopefulbut also completely and utterly exhausted.

The balance is not great right now, Jenny admits. Its not great in terms of any aspect of our life and relationships and family. She and Ryan struggle to strike an impossible balance between constantly working to give their daughter a future and simply enjoying the time they have with her today. I wouldnt be able to live with myself if I wasnt putting everything I had into this, she says. But once this next fundraiser is over, weve said we need to take a break.

The Braggs worry about their older child, Tannerwith all the attention on his sister, is it even possible to give him a normal childhood? Hes only 5, and they arent sure how much he understands about the situation. They make a point to fit in his T-ball practices and take him to playdates. We try to prioritize him, to spend one-on-one time, Jenny says. But its a lot of energy that goes into Clara.

The night before our interview, Jenny says, Tanner blurted out a question as she was tucking him into bed. Is Clara going to die? She paused, taken aback, then decided she might as well tell him the truth: She will if we dont get her medicine in time.

Illustration by Jonathan Bartlett

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A Cure for Clara - The Alcalde

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HIGHLAND PARK The Foundation Fighting Blindness, the worlds largest private funder of sight-saving retinal disease research, hosted the 16th Annual Artistry of Wine on June 22 at the Highland Park Country Club. The 242 attendees enjoyed tastings from some of the top restaurants in the Chicagoland area along with a silent auction and a sweepstakes drawing to win a chance to drive a new Tesla SUV for a long weekend.

The event raised $89,000 to support the Foundations mission to advance research into preventions, treatments and cures for blinding retinal diseases including age-related macular degeneration (AMD) and retinitis pigmentosa (RP) that affect more than 10 million Americans, young and old. As promising treatments move into critical human studies, the need for research funding is greater than ever.

Artistry of Wine Co-Chairs and Foundation Fighting Blindness National Trustees Joel and Barbara Stone of Highland Park have two sons affected with Retinitis Pigmentosa. When our first son, Michael, was diagnosed we were told there is no treatment or cure for his degenerating retinal disease, says Barbara. Today there is still no cure, but thanks to the promising research funded by the Foundation Fighting Blindness, there is hope for a brighter future for all those affected with these blinding diseases.

Featured tasting stations at the event were: Bella Via, Bent Fork Bakery, Coopers Hawk Winery & Restaurant, Copper Fiddle Distillery, Half Day Brewing Company, Highland Park Country Club, KOVAL Distillery, La Macchina Caf, Maggianos Little Italy, Onion Garden, Park Street, Uncle Julios, Pinstripes, Revolution Brewery, Spin-Spun All Natural Confections.

Submitted by Foundation Fighting Blindness The Foundation Fighting Blindness is a national non-profit organization driving the research that will lead to preventions, treatments and cures for retinitis pigmentosa, age-related macular degeneration, Usher syndrome and the entire spectrum of retinal diseases that affect more than 10 million Americans. Since 1971, the Foundation has raised nearly $700 million as the leading non-governmental funder of inherited retinal research. Breakthrough Foundation-funded studies using gene therapy have restored significant vision in children and young adults who were previously blind, paving the way for additional clinical trials to treat a variety of retinal diseases. The Foundation also has nearly 45 chapters that provide support, information and resources to affected individuals and their families in communities across the country.

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Artistry of Wine - Daily North Shore

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It doesnt take long for seemingly outlandish ideas to become normalized. Today, Stanford University professor Hank Greelys assertion that Americans will stop having sex to procreate sounds absurd. But in a couple of decades, he predicts, that will be the accepted reality.

Greely, director of Stanford Law Schools Center for Law and the Biosciences, believes that were 20 to 30 years away from a time when most American procreation will begin by selecting from a range of embryos created with the parents DNA in a lab. This already happens on a limited basis for disease prevention and occasionally sex selection, but he argues it will become far cheaper and widely available thanks to stem cell technology that will allow couples to make eggs and sperm out of stem cells from their skin.

Prospective parents will start by screening those embryos for genetic diseases such as Huntingtons, but quickly expand to other traits, he predicts. Perhaps theyll weed out the BRAC1 gene for breast cancer, predispositions for Alzheimers, or theyll be able to select cosmetic features such as hair and eye color, and even more complex traits such as intelligence.

I dont think were going to be able to say this embryo will get a 1550 on its two-part SAT, Greely said this week at Aspen Ideas Festival. But, this embryo has a 60% chance of being in the top half, this embryo has a 13% chance of being in the top 10%I think thats really possible.

And, though he recognizes that there are ethical issues, Greely views this scenario as far from dystopian. People say, How can we let this happen? I think we will, he said.

At times, he sounded flippant about the prospect. I think one of the hardest things about this will be all the divorces that come about when she wants embryo number 15 and he wants embryo number 64, he said. I think the decision making will be a real challenge for people. How do you weigh a slightly higher chance of diabetes with slightly lower risk of schizophrenia against better musical ability and a much lower risk of colon cancer? Good luck.

Greely brushed aside the concern that what hes describing meddles too much with nature. This is not designer babies or super babies, he said. This is selecting embryos. You take two people, all you can get out of a baby is what those two people have.

There are already concerns that CRISPR, the tool that scientists use to edit DNA, will be put to use to create perfect embryos. But Greely dismisses this as unlikely. He argues that the embryo selection process will simply begin as an infertility treatment before expanding. People, particularly where I live in Silicon Valley, will want to do it to get their perfect egg, he added.

Greely acknowledges that ethical issues will likely arise around safety, coercion, fairness, and family structure, but does not see any of these as obstacles that will halt the development of this practice.

And what of a world where the elites have perfectly selected children while those less well off are left to deal with the diseases and imperfections that no longer affect the wealthy? Greely has the answer: The whole thing will be free. The parents wont be charged.

The key is the health care cost savings, he said, pointing out that, should it cost $10,000 to make a baby this way, then 100 babies would cost $1 million dollars. Meanwhile, the cost of caring for a truly sick baby is so great, Greely said the births of just 0.3 sick babies would need to be avoided to save $1 million.

Greelys scenario could well prove overly optimistic in the US, and it certainly doesnt apply internationally. I think different cultures will pick it up at different rates. I think the US will be relatively accepting, Germany with its history is very anti any genetic interventions and I think theyre going to be slow, said Greely.

Should his vision come to pass, wealthy nations such as the US and China could begin this practice long before Somalia, for example. And so it seems almost inevitable that the world would become genetically divided between those who can breed out the flaws, and those who cannot.

Greely foresees a scenario where future generations will be much healthier, and possibly a little taller and smarter. From his telling, this unnerving prophesy sounds almost normalwhich is the most terrifying prospect of all.

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In the future, we won't have sex to procreate - Quartz

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Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.

Talking to your doctor, a medical geneticist or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.

When genetic testing doesn't lead to a diagnosis but a genetic cause is still suspected, some facilities offer genome sequencing a process for analyzing a sample of DNA taken from your blood.

Everyone has a unique genome, made up of the DNA in all of a person's genes. This complex testing can help identify genetic variants that may relate to your health. This testing is usually limited to just looking at the protein-encoding parts of DNA called the exome.

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Genetic testing Overview - Mayo Clinic

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Whole genome sequencing involves the analysis of all three billion pairs of letters in an individuals DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease.

However, the use of genome sequencing in healthy individuals is controversial because no one fully understands how many patients carry variants that put them at risk for rare genetic conditions and how theyand their doctorswill respond to learning about these risks.

Get more HMS news here

In a new paper published June 26 in the Annals of Internal Medicine by investigators at Harvard Medical School and Brigham and Womens Hospital, along with collaborators at Baylor College of Medicine, report the results of the four-year, NIH-funded MedSeq Project, the first-ever randomized trial conducted to examine the impact of whole genome sequencing in healthy primary care patients.

In the MedSeq Project, 100 healthy individuals and their primary care physicians were enrolled and randomized so that half of the patients received whole genome sequencing and half did not.

Nearly 5,000 genes associated with rare genetic conditions were expertly analyzed in each sequenced patient, and co-investigators from many different disciplines, including clinical genetics, molecular genetics, primary care, ethicsand law, were involved in analyzing the results.

Researchers found that among the 50 healthy primary care patients who were randomized to receive genome sequencing, 11 (22 percent) carried genetic variants predicted to cause previously undiagnosed rare disease.

Two of these patients were then noted to have signs or symptoms of the underlying conditions, including one patient who had variants causing an eye disease called fundus albipunctatus, which impairs night vision.

This patient knew he had difficulty seeing in low-light conditions but had not considered the possibility that his visual problems had a genetic cause.

Another patient was found to have a genetic variant associated with variegate porphyria, which finally explained the patients and family members mysterious rashes and sun sensitivity.

The other nine participants had no evidence of the genetic diseases for which they were predicted to be at risk. For example, two patients had variants that have been associated with heart rhythm abnormalities, but their cardiology workups were normal. It is possible, but not at all certain, that they could develop heart problems in the future.

Sequencing healthy individuals will inevitably reveal new findings for that individual, only some of which will have actual health implications, said lead author Jason Vassy,an HMS assistant professor of medicine at Brigham and Womens and primary care physician at the VA Boston Healthcare System.

This study provides some reassuring evidence that primary care providers can be trained to manage their patients sequencing results appropriately, and that patients who receive their results are not likely to experience anxiety connected to those results. Continued research on the outcomes of sequencing will be needed before the routine use of genome sequencing in the primary care of generally healthy adults can be medically justified, Vassy said.

Primary care physicians received six hours of training at the beginning of the study regarding how to interpret a specially designed, one-page genome testing report summarizing the laboratory analysis.

Consultation with genetic specialists was available, but not required. Primary care physicians then used their own judgment about what to do with the information, and researchers monitored the interactions for safety and tracked medical, behavioral and economic outcomes.

The researchers noted that they analyzed variants from nearly 5,000 genes associated with rare genetic diseases. These included single genes causing a significantly higher risk for rare disorders than the low-risk variants for common disorders reported by direct-to-consumer genetic testing companies. No prior study has ever examined healthy individuals for pathogenic (high-risk) variants in so many rare disease genes.

We were surprised to see how many ostensibly healthy individuals are carrying a risk variant for a rare genetic disease, said Heidi Rehm, HMS associate professor of pathology at Brigham and Women's anddirector of the Laboratory for Molecular Medicine at Brigham and Women's.

We found that about one-fifth of this sample population carried pathogenic variants, and this suggests that the potential burden of rare disease risk throughout our general population could be far higher than previously suspected,said Rehm, a co-investigator on the study who directed the genome analysis.However, the penetrance, or likelihood that persons carrying one of these variants will eventually develop the disease, is not fully known.

Additionally, investigators compared the two arms of the studyand found that patients who received genome sequencing results did not show higher levels of anxiety. They did, however, undergo a greater number of medical tests and incurred an average of $350 more in health care expenses in the six months following disclosure of their results. The economic differences were not statistically significant with the small sample size in this study.

Because participants in the MedSeq Project were randomized, we could carefully examine levels of anxiety or distress in those who received genetic risk information and compare it to those who did not, said Amy McGuire,director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

While many patients chose not to participate in the study out of concerns about what they might learn, or with fears of future insurance discrimination, those who did participate evinced no increase in distress, even when they learned they were carrying risk variants for untreatable conditions, saidMcGuire, who supervised the ethical and legal components of the MedSeq Project.

There has also been great concern in the medical community about whether primary care physicians can appropriately manage these complicated findings. But when a panel of expert geneticists reviewed how well the primary care physicians managed the patients with possible genetic risk variants, the experts determined that only two of the 11 cases were managed inappropriately and that no harm had come to these patients.

MedSeq Project investigators note that the studys findings should be interpreted with caution because of the small sample size and because the study was conducted at an academic medical center where neither the patients nor the primary care physicians are representative of the general population. They also stressed that carrying a genetic risk marker does not mean that patients have or will definitely get the disease in question. Critical questions remain about whether discovering such risk markers in healthy individuals will actually provide health benefits, or will generate unnecessary testing and subsequent procedures that could do more harm than good.

Integrating genome sequencing and other -omics technologies into the day-to-day practice of medicine is an extraordinarily exciting prospect with the potential to anticipate and prevent diseases throughout an individuals lifetime, said senior author Robert C. Green, HMSprofessor of medicineat Brigham and Womens Hospital,associate member of the Broad Institute of Harvard and MITandleader ofthe MedSeq Project. But we will need additionalrigorously designed and well-controlled outcomes studies like the MedSeq Project with larger sample sizes and with outcomes collected over longer periods of time to demonstrate the full potential of genomic medicine.

The MedSeq Project is one of the sites in the Clinical Sequencing Exploratory Research Consortium and was funded by the National Human Genome Research Institute, part of the National Institutes of Health.

The Genomes2People Research Program at Brigham and Womens Hospital, the Broad Institute and Harvard Medical School conducts empirical research in translational genomics and health outcomes. NIH-funded research within G2P seeks to understand the medical, behavioral and economic impact of using genetic risk information to inform future standards. The REVEAL Study has conducted several randomized clinical trials examining the impact of disclosing genetic risk for a frightening disease. The Impact of Personal Genomics (PGen) Study examined the impact of direct-to-consumer genetic testing on over 1,000 consumers of two different companies. The MedSeq Project has conducted the first randomized clinical trial to measure the impact of whole genome sequencing on the practice of medicine. The BabySeq Project is recruiting families of both healthy and sick newborns into a randomized clinical trial where half will have their babys genome sequenced. Green directs the Program.

Adapted from a Brigham and Women's news release.

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Genetic Testing for the Healthy - Harvard Medical School (registration)

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Patients who underwent genetic screenings now fear that documentation of the results in their medical records could lead to problems if a new health law is enacted. Sam Edwards/Caiaimage/Getty Images hide caption

Patients who underwent genetic screenings now fear that documentation of the results in their medical records could lead to problems if a new health law is enacted.

Two years ago, Cheasanee Huette, a 20-year-old college student in Northern California, decided to find out if she was a carrier of the genetic mutation that gave rise to a disease that killed her mother. She took comfort in knowing that whatever the result, she'd be protected by the Affordable Care Act's guarantees of insurance coverage for pre-existing conditions.

Her results came back positive. Like her mother, she's a carrier of one of the mutations known as Lynch syndrome. The term refers to a cluster of mutations that can boost the risk of a wide range of cancers, particularly colon and rectal.

As Republican lawmakers advance proposals to overhaul the ACA's consumer protections, Huette frets that her future health coverage and employment options will be defined by that test.

She even wonders if documentation of the mutation in her medical records and related screenings could rule out individual insurance plans. She's currently covered under her father's policy. "Once I move to my own health care plan, I'm concerned about who is going to be willing to cover me, and how much will that cost," she says.

In recent years, doctors have urged patients to be screened for a variety of diseases and predisposition to illness, confident it would not affect their future insurability. Being predisposed to an illness such as carrying the BRCA gene mutations associated with breast and ovarian cancer does not mean a patient will come down with the illness. But knowing they could be at risk may allow patients to take steps to prevent its development.

Under the current health law, many screening tests for widespread conditions such as prediabetes are covered in full by insurance. The Centers for Disease Control and Prevention and the American Medical Association have urged primary care doctors to test patients at risk for prediabetes. But doctors, genetic counselors and patient advocacy groups now worry that people will shy away from testing as the ACA's future becomes more uncertain.

Dr. Kenneth Lin, a family physician at Georgetown University School of Medicine in Washington, D.C., says if the changes proposed by the GOP become law, "you can bet that I'll be even more reluctant to test patients or record the diagnosis of prediabetes in their charts." He thinks such a notation could mean hundreds of dollars a month more in premiums for individuals in some states under the new bill.

Huette says she's sharing her story publicly since her genetic mutation is already on her medical record.

But elsewhere, there have been "panicked expressions of concern," says Lisa Schlager of the patient advocacy group Facing Our Risk of Cancer Empowered (FORCE). "Somebody who had cancer even saying, 'I don't want my daughter to test now.' Or 'I'm going to be dropped from my insurance because I have the BRCA mutation.' There's a lot of fear."

Those fears, which come in an era of accelerating genetics-driven medicine, rest upon whether a gap that was closed by the ACA will be reopened. That remains unclear.

A law passed in 2008, the Genetic Information Nondiscrimination Act, bans health insurance discrimination if someone tests positive for a mutation. But that protection stops once the mutation causes "manifest disease" essentially, a diagnosable health condition.

That means "when you become symptomatic," although it's not clear how severe the symptoms must be to constitute having the disease, says Mark Rothstein, an attorney and bioethicist at the University of Louisville School of Medicine in Kentucky, who has written extensively about GINA.

The ACA, passed two years after GINA, closed that gap by barring health insurance discrimination based on pre-existing conditions, Rothstein says.

On paper, the legislation unveiled by Senate Majority Leader Mitch McConnell last week wouldn't let insurers set higher rates for people with pre-existing conditions, but it could effectively exclude such patients from coverage by allowing states to offer insurance plans that don't cover certain maladies, health analysts say. Meanwhile, the bill that passed the House last month does have a provision that allows states to waive protections for people with pre-existing conditions, if they have a gap in coverage of 63 days or longer in the prior year.

When members of a Lynch Syndrome social media group were asked for their views on genetic testing amid the current health care debate, about two dozen men and women responded. Nearly all said they were delaying action for themselves or suggesting that family members, particularly children, hold off.

Huette was the only one who agreed to speak for attribution. She says before the ACA was enacted, she witnessed the impact that fears about insurance coverage had on patients. Her mother, a veterinarian, had wanted to run her own practice but instead took a federal government job for the guarantee of health insurance. She died at the age of 57 of pancreatic cancer, one of six malignancies she had been diagnosed with over the years.

Huette says she doesn't regret getting tested. Without the result, Huette points out, how would she have persuaded a doctor to give her a colonoscopy in her 20s?

"Ultimately, my health is more important than my bank account," she says.

Kaiser Health News, a nonprofit health newsroom whose stories appear in news outlets nationwide, is an editorially independent part of the Kaiser Family Foundation.

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Patients Who Tested Positive For Genetic Mutations Fear Bias ... - NPR - NPR

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When a woman breaks up with a man, she usually wants every remnant of him removed from her life. A new study suggests that, try as she might, there may be one last piece of him that shes stuck with for good: his DNA. A study from Australia has managed to prove that fly offspring are able to resemble a mothers previous sexual partner, even when conceived with their fathers sperm.

The idea of telegony, or previous mates influencing a womans offspring, has been around for centuries. It was first proposed by the Greek philosopher Aristotle and was accepted as science until the early 1900s when it was disproved and replaced by more modern genetic theory, according to the study'spress release. Unfortunately, the theory was largely used as a fear tactic to prevent women from copulating with different races or lower classes, but the study suggests the theory may have some elements of truth for flies, at least.

To test the age old theory of telegony, the researchers manipulated male flies to grow to a certain height by changing the amount of nutrients in their diet. They then mated immature females with either large or small males. Later on, the now mature females were again mated with males of various sizes. The subsequent offspring were then studied, and what researchers observed was quite remarkable.

"We found that even though the second male sired the offspring, offspring size was determined by what the mother's previous mating partner ate as a maggot, Dr. Angela Crean, led researcher on the project, explained in the press release. "Our new findings take this to a whole new level showing a male can also transmit some of his acquired features to offspring sired by other males.

The researchers are not yet sure about why this phenomenon occurs but believe it may be due to molecules in the seminal fluid of the first mate being absorbed by the females immature eggs and then influencing the growth of offspring of a later mate. This finding only adds to the already complicated field of genetics. Scientists are only just beginning to grasp the concept that offspring genetics are influenced by non-genetic factors, such as their parents diet. Our new findings take this to a whole new level, Crean said.

To answer the question that Im sure is on every one of your minds, no the researchers are not yet sure whether this phenomenon exists in any other species, but testimony of many experienced breeders suggests it may be.As for humans, I dont even want to begin opening that can of worms, but Crean did tell Medical Daily in an email that she's not ruling out this possibility.

There is no evidence of such effects in humans, but there has not been any research on this possibility in humans. There is a potential for such effects in mammals, explained Crean. For example, there is a lot of foetal DNA in maternal blood during pregnancy, and this could potentially play a role in such effects. There is also evidence in mammals that seminal fluid affects offspring development, so semen from one male could potentially influence the development of eggs fertilized by another male (which is what we think is happening in flies).

Crean added that due to ethical restraints it would be difficult to conduct a similar experiment on humans.

Update: Direct quotes from Dr. Angela Crean have been recently added.

Source: Crean AJ, Kopps AM, Bonduriansky R. Revisiting telegony: offspring inherit an acquired characteristic of mothers previous mate. Ecology. 2014.

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DNA From Sperm Of Ex Partners Lingers In Female Flies And ...

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By Mary Pringle for Island Eye News

A vial containing the DNA sample for Nest #23 on the Isle of Palms which was laid at Summer Dunes Lane on June 16.

You may be aware that this is the 8th nesting season that the Island Turtle Team has taken DNA samples from every nest laid on our islands. This is a huge project involving all of the loggerhead nests in North and South Carolina and Georgia. Recently Dr. Brian Shamblin of the University of Georgia has expanded it to include some of the nests in Florida where many thousands of loggerhead nests are laid each year. It takes multiple years of funding to gather these results.

The purpose of this study is not only to get an accurate picture of the population of nesting loggerheads on the Atlantic Coast but also to find out:

How many clutches of eggs does each nesting female lay in a year?

Is she nesting on more than one beach?

How far apart are her nests?

How many turtles are nesting in more than one state?

Most individual females do not nest every year. How often does each turtle nest: every two years, three years, four or more years?

How precisely does a daughter return to her hatching site to lay her eggs?

Results have shown fascinating things about our nesting females. It takes 25-30 years for a female loggerhead to mature and start laying eggs. This study has shown that there is a grandmother in the Cape Romain National Wildlife Refuge near McClellanville who is still laying nests. She has 14 daughters currently nesting and even has 4 granddaughters nesting! How amazing is that?

In one of the earlier years of the study there was a loggerhead who nested on the Isle of Palms, then two weeks later laid eggs on Hatteras Island in NC, and two weeks after that laid a third nest on Cumberland Island in Georgia. So the information we formerly told people about turtles always returning to the beach where they were hatched is not necessarily true although some of them seem to do so. The study is also showing that individual females usually nest 4 to 6 times in a season at 2 week intervals but then will rest and restore their body condition and skip a year or even two before coming back to lay eggs again. With over 100 eggs each time, this is quite a feat.

We are excited to see the DNA results from the first two nests of 2017. Nest #1 at 56th Avenue, the earliest in NC, SC, or GA, was a faithful IOP nester. She laid eggs here 3 times in 2012. In 2014 she was a busy girl with 4 nests on the IOP and one on Dewees Island.

She did not lay eggs in 2013, 2015 or 2016 but is now back. The mother of our Nest #2, who laid eggs up against the pool fencing at 510 Ocean Blvd, is not as faithful to our island. She nested in 2015, twice in North Carolina and once on Capers Island, but took last season off. It will be interesting to see in our future samples of one eggshell from each of our nests if these two turtles lay more than once on our beaches or where else they go to nest.

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Genetics Research Update - Island Eye News

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Recording among best weight gains in the first phase of Ekkas Wagyu Challenge, the Hughes familys beef operation appears on-track.

Richard and Dyan Hughes, Wentworth, Clermont introduced Wagyu genetics into their cattle operation 20 years ago and now have Wagyu bulls covering their entire breeding herd.

The Hughes family run more than 10,000 head of cattle across their 40,500 hectare aggregation of properties called Wentworth Station near Clermont, which includes 6000 hectares of sharefarming land, and also run a breeding herd on their Strathalbyn property in Queenslands Burdekin region between Collinsville and Home Hill.

Richard and Dyan Hughes, Wentworth, Clermont placed second in the first phase of this year's Ekka Wagyu Challenge - Best Weight Gain for Pen of Six Grain Fed Wagyu Steers with F2+ Wagyus and achieving a daily average weight gain of 1.23kg.

With a focus on producing highly fertile females and excellent eating quality beef outcomes, the Hughes family have gradually moved towards incorporating more Wagyu genetics in their cattle.

Weve been breeding crossbred Wagyus for at least 20 years and have found we are achieve go results for our beef business with the breed, Mrs Hughes said.

Recently we have started to put Wagyu bulls over our entire breeding herd.

The Hughes started increasing the amount of Wagyu genetics in their herd after noticing very high pregnancy rates in all crossbred Wagyu females at their Burdekin region breeding property.

Any female with some Wagyu in her was falling pregnant very easily, much better than the Brahman/Red Poll-cross females we were running the property, Mrs Hughes said.

It made sense to us to go for fertility when we are also getting the excellent meat eating quality traitswith the Wagyu cattle.

Thats not to say our Brahman cattle didnt have great eating quality as well because weve gone in some taste testing competitions with our Brahman-cross cattle and they can mix it with the best.

Mr Hughes added their cattle operation wanted good fertility traits of the Wagyu breed with the ability of all females to have a calf every year.

The Wagyu breed isvery efficient and fertile type of cattle, he said.

As a cattle operation we have strongly focused on meat quality over the last 15 to 20 years, so I think the beef we produce would be suitable for a dinner table anywhere.

Currently, the Hughes family have a beef supply chain into 400-day Wagyu-cross grain feeding program at Mort and Cos Grassdale feedlot near Dalby, in which Richard and Dyan Hughes are current shareholders in the Mort and Co feedlot.

The season has been very favourable recently for the Hughes familywho previous were in three years of drought across their two large cattle properties.

This is the best our country has looked in many years with good storm rain rolling across our properties since July last year, Mr Hughes said.

We were selling cattle into the live export market and feeder cattle to feedlots during the drought.

We really havent grass finished a steer for four years and this is our first year back at it.

As well as the Wagyu-cross feeder cattle, the Hughes family also run a grass fed beef supply chain that incorporates Red Poll and Brahman genetics originally used in developing a composite bred for their Strathalbyn breeding property in the Burdekin region.

We are now using Wagyu genetics over the Red Poll/Brahman-cross composite cattle as well and selling grass finished steers into a grass fed beef market, Mrs Hughes said.

All we have ever striven for in our cattle operation is fertility and meat quality.

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Hughes benefit from Wagyu fertility and eating quality - Queensland Country Life

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In 1977, Alondra Nelson remembers lying stomach-down, head-in-hands, in front of the television, watching Alex Haleys miniseries Roots with her parents. I knew that something special was happening because my parents didnt let us watch TV in the evenings, and here, they were letting us watch eight nights in a row, she told a crowd at the Aspen Ideas Festival, which is co-hosted by the Aspen Institute and The Atlantic. They wanted us to see it for its historic nature.

The miniseries, which traced Haleys genealogy back to the Gambia, spurred many African Americans to start tracing their own ancestries. And it inspired Nelsons own interest in genealogy and the social consequences of learning about ones roots. Now, as the dean of social science at Columbia University, Nelson has spent more than a decade studying what she describes as a new groundswell of root-seekingone propelled by genetic testing.

Today, there are dozens of companies that will sequence segments of a customers DNA and tell them about their ancestry. When Nelson asked the audience how many had made use of such services, at least a dozen people raised their hands. But in 2002, the industry was a nascent one. To find its early customers, Nelson had to go to old-fashioned genealogy clubs and societies.

The history of genetics as a field is steeped in eugenics and scientific racism. And yet, Nelson says that for many African Americans, DNA testing held a special appeal because many of the traditional methods of genealogy had been complicated by the history of slavery. Records disappeared. Names changed. People were trafficked across state lines. Stories were verboten because they were too traumatic. Ancestry testing offered a way of circumventing these obstacles, and airing stories that might never otherwise have come to light. Its an interesting story about race and genetics, Nelson says. When we talk about African Americans in science, its often a story of skepticism and distrust. But this ancestry-testing story is one of pioneering early adopters who are willing to do something different.

One such pioneer was Rick Kittles, a geneticist and cancer researcher who founded a company called African Ancestry Inc. His service provided only broad inferences about where people came from, but for many customers, that was enough. It definitely wasnt perfect, but many people said that if its a choice between no information or an inference that might be slightly off, Ill take the inference, Nelson says.

As tests became more precise, those inferences often proved to be unexpectedly moving. Nelson once met a group of African Americans whose DNA suggested that they had Sierra Leonean ancestry. They met for a ceremony of remembrance on the Ashley River in South Carolina, at a ferry landing where slaves were disembarked from ships and auctioned off. The actor Isaiah Washington was there. A man cast soil and stones from Sierra Leone into the river and said a prayer.

We talk about the history of slavery in this country and it feels so abstract. But genetic ancestry testing can make it very personal, she says. The ceremony allowed for a social practice of healing, where people didnt just have to sit with the knowledge. Many of the folks I talked to tell very moving stories about new relationships they began in their communities with their genetic test results.

Nelson expands on this theme in her recent book, The Social Life of DNA. In it, she argues that DNA is more than a molecule that defines our identity; it also takes a social life beyond its influence within individual bodies. The communities that can arise from ancestry testing are a far cry from the cutesy images often used to sell ancestry tests, in which bemused people swap lederhosen for tartan. This test was not just about identity in a narcissistic way, but about people trying to reconcile the history of slavery, and scaling up from their ancestry test to what it means for the history of the U.S., says Nelson.

When Nelson first looked at ancestry tests, they were mainly of interest to the 50-plus crowd. But theyre now capturing the interest of a younger demographic who are drawn to the quantified-self movement, and the power of dramatically revealing where you came from, reality TV-style. Nelson knows that power first-hand. I didnt want to do the test, but I thought if I was going to do it, it would be with a big reveal, she says.

It happened in an Atlanta ballroom, with Rick Kittles and Isaiah Washington MCing. At the event, Martin Luther King III learned his ancestry on his mothers side traced back to Africa, while his fathers line traced to Scotland and Ireland. He told a story about how were all related in the end, and spoke about his desire to go to Europe. Marcus Garvey Jr.s son heard similar resultsa mothers line that descended from Africa and a fathers line that came from the Iberian Peninsula. He told a story that highlighted the horrors of slavery. It was an example about how these results, even when theyre very similar, get taken up into these stories that are important to us, says Nelson.

She learned that her mitochondrial DNA (which passes down the female line) traced back to the Bamileke people of Cameroona fact that delighted her mother. She couldnt wait to tell everyone, Nelson says. And then soon after, she developed a close relationship with a woman from Cameroon, whose family would spend holidays with us. Her son had grandparents day at school, and since his grandparents are in Cameroon, he invited my motherthe DNA Cameroonianto be his grandparent for the day.

Continue reading here:
How African Americans Use DNA Testing to Connect With Their Past - The Atlantic

Recommendation and review posted by simmons

Imagine a world in which youre 90 years old and nowhere near middle-aged. An app on your phone has hacked your DNA code, so you know exactly when to go to the doctor to receive gene therapy to prevent all the diseases you dont yet have. A microchip in your skin sends out a signal if youre at risk of developing a wrinkle so you step out of the sun and hotfoot it to your dermatologist. Every evening you sync your brain-mapping device with The Cloud, so even if you were caught up in a fatal accident youd still be able to cheat death every detail of your life would simply be downloaded to one of the perfect silicon versions youd had made of yourself, ensuring you last until at least your 1,000th birthday.

This may sound like science fiction but it could be your fate provided you can afford it. If current research develops into medicine, in the London of the future the super-rich wont simply be able to buy the best things in life, theyll be able to buy life itself by transforming themselves into a bio-engineered super-race, capable of living, if not forever, then for vastly longer than the current UK life expectancy of 81 years.

The science of turning back the clock has never been more advanced. In Boston, a drug capable of reversing half a lifetime of ageing in mice is about to be tested on humans in a medical trial monitored by Nasa. NMN is a compound found naturally in broccoli which boosts levels of NAD, a protein involved in energy production that depletes as we get older. Professor David Sinclair, who headed up the initial research at Australias University of New South Wales, doses himself with 500mg daily, and claims that he has already become more youthful. According to blood tests analysing the state of the 48-year-olds cells, prior to taking the pills Sinclair was in the same physical shape as a 57-year-old, but now hes 31.4.

Meanwhile, Hollywood stars looking for the elixir of youth might want to keep a close eye on developments at Newcastle University where last February Professor Mark Birch-Machin identified, for the first time, the mitochondrial complex which depletes over time, causing skin to age. Mitochondria are the battery packs that power our cells so if we want to slow down ageing we need to keep them topped up; doing so would be transformative for our appearance. In the future, Birch-Machin believes, well not only be taking pills and applying cosmetics, well have implants in our skin. Implants will tell us the state of it how well our batteries are doing, how many free radicals, and will inform us how we are doing with our lifestyle, he says. You can store it, log it, have that linked to your healthcare package.

Such medical discoveries are being translated into treatment at an unprecedented rate. The day after the results of Birch-Machins study were published in The New York Times, his department was contacted by nine companies hoping to turn his research into revolutionary pharmaceuticals. In 2009, Elizabeth Blackburn, a professor of biology and physiology at the University of California, won a Nobel Prize for her work on telomeres, the protective tips on our chromosomes that break down as we get older, leaving us prone to age-related diseases. Blackburn discovered an enzyme called telomerase that can stop the shortening of telomeres by adding DNA like a plastic tip fixing the end of a fraying shoelace. Today, rich Californians now use telomeres therapy to prolong the life of their pets.

Last year, in Monterey, California, the start-up Ambrosia (founded by Dr Jesse Karmazin, a DC-based physician) began trialling the effect of blood transfusions, pumping blood from teenagers into older patients, following studies thatfound that blood plasma from young mice can rejuvenate old mice, improving their memory, cognition and physical activity.

Dr Richard Siow, who heads up the Age Research department at Kings College London, believes we may be soon reach a significant point in anti-ageing research because of the massive amounts of money allocated by governments and charities worldwide in the hope of making a breakthrough. Indeed, according to a survey by Transparency Market Research, by 2019 the anti-ageing market will be worth 151 billion worldwide. Life expectancy in many countries has already increased from 65-68 all the way through to 70, 80, 85 because people are now surviving heart disease, strokes and cancer, points out Siow, who has been studying anti-ageing compounds found in Indian spices and tea. We are now redefining what ageing means. How can we extend that period of health so were not a burden?

It is in Silicon Valley, however, that the really radical advances seem likely to be made. Freshly minted internet tycoons appear willing to pay any price to prolong their lives and a critical mass of geeks is working furiously towards understanding our biology at an unprecedented rate. Take Dmitry Itskov, the Russian billionaire founder of the life-extension non-profit 2045 Initiative, who is paying scientists to map the human brain so our minds can be decanted into a computer and either downloaded to a robot body or synced with a hologram. Or Joon Yun, a physician and hedge fund manager who insisted at an anti-ageing symposium of the California elite in March that ageing is simply a programming error encoded in our DNA. If something is encoded, you can crack the code, he told an audience which, according to The New Yorker, included multi-billionaire Google co-founder Sergey Brin and Goldie Hawn. Thermodynamically, there should be no reason we cant defer entropy indefinitely. We can end ageing forever.

And then theres PayPal founder (and Donald Trump supporter) Peter Thiel, who has a net worth of 2.1 billion and has reportedly invested in start-up Unity Biotechnology which aims to develop drugs that make many debilitating consequences of ageing as uncommon as polio. Thiel has also offered funding to individual researchers, such as Aubrey de Grey, the Chelsea-born, Cambridge and California-based gerontologist who ploughed the 11 million he inherited from his artist mother, Cordelia, into founding the Strategies for Engineered Negligible Senescence Research Foundation in Mountain View, which promotes the use of rejuvenation biotechnology in anti-ageing research.

Of course, the best known element of the immortality industry is cryogenic freezing. Despite its reputation as the last resort of wealthy cranks, it remains in business; at the Alcor cryonics facility in Arizona, 149 corpses have already been preserved in liquid nitrogen at a temperature of minus 196C since it was founded in 1972. Worldwide there are thousands of people signed up for cryogenics services, including Alcors 28 clients in the UK. The service doesnt come cheap (full-body freezing costs 165,000, while having your head cut off and frozen is around 60,000) but it has some impressive-sounding clients, including de Grey and Dr Anders Sandberg, research fellow at Oxford Universitys Future of Humanity Institute.

Its a gamble but its still much better than being dead, says Sandberg. He envisages a world in which the brain is paramount, so when his is revived it could be transformed into a sort of computer programme containing all of his memories of life on earth. If you actually exist as software you have a lot of options. I do enjoy having a physical body but why have just one when you could have lots of different ones?

Of course, if such experiments do come to fruition, they could have far reaching implications for our society. Already, a rapidly ageing population is placing enormous stress on healthcare and pension systems worldwide. De Grey sees the problem of over-population being cured by a dwindling birth-rate. Buthe says little about the impact this would have on the young.

Then theres the question of whether we will one day be living in a world defined by gaping differences in life expectancy where the haves live for 10 times longer than the have nots. Mortality has been the great equaliser from beggars to kings to emperors, says Dr Jack Kreindler, medical director at the Centre for Health & Human Performance in Harley Street. If people embark on really sophisticated, targeted therapies to repair damage to their cells... I think were definitely entering into them and us territory. As projected in Homo Deus, the best-selling book of Israeli academic Yuval Noah Harari, Kreindler adds, we could witness a schism in humanity where we have some people so bioengineered that only the very, very rich can sustain the amount of maintenance required to look after their enhancements, while others simply cant afford to do anything but be natural.

Nevertheless, the quest to overcome mortality continues apace. Last year, at a TEDx symposium Kreindler convened at the Science Museum, Daisy Robinton, a post-doctoral scientist at Harvard University, put forward the theory that ageing should be considered a disease in itself. She described the excitement in the medical community at the discovery of CRISPR/Cas9, a protein that seems to allow us to target and delete genetic mutations in our DNA. Gene editing provides an opportunity to not only cure genetic disease but also to prevent diseases from ever coming into being, Robinton claimed. To treat our susceptibilities before they ever transform into symptoms.

If this theory became fact, dying of old age might one day seem as outmoded as being felled by one of the mass killers of the past for which we get vaccinated. If gene editing on this scale is possible, Kreindler says we have to ask: Can your cells become immortal, can they live forever?

At the Centre for Health & Human Performance, treatments may still be firmly rooted in the 21st century, focused as they are on helping athletes optimise their fitness and celebritiessuch as David Walliams complete gruelling challenges for Sport Relief. But Kreindler is clearlyin awe of what the latestmedical advances might mean for the future of the human race.

I dont believe this should be only for the very rich, he says. If youre going to do things, dont just do it for the billionaires, do it for the billions.

Continued here:
Why the super-rich are ploughing billions into the booming 'immortality industry' - Evening Standard

Recommendation and review posted by simmons

Dr. Carol Renke and her family practice exudes a familial atmosphere and thats exactly how she likes it. Her husband, Robert Renke, serves as practice manager; much of her staff has been with her for many years; and Renke gets to care for multiple generations of patients, ranging from adolescents to the elderly.

Ive gotten to see patients through different phases of life and I love getting to know them as people, not just their medical histories, she says. I make sure Im spending a little more time with my patients than I think most people are doing these days.

Her two staff physician assistants keep appointments open daily so sick patients can get same-day appointments rather than having to wait. Even with last-minute scheduling, Renke oversees the cases. I review everything. All the blood tests, all the X-rays, she says. And in the style of old-fashioned medicine, Renke insists on following up with a letter or a call after every test. Theres no, Oh if you dont hear from us, everythings fine, she explains. If you do a test, you want the results.

Read more from the original source:
Carol Renke, MD Top Doctors 2017 - Palm Springs Life

Recommendation and review posted by Bethany Smith

Stress. Lets face it. We all have it. The people who dont read this article are simply in denial or arent ready to face it. Stress is the kudzu that looks pretty benign at first, but then takes over everything. It grows out of control. This can lead to adrenal fatigue, which well get into through a future column. We need to figure out how to become more aware of it in order to address it head on.

Stress comes in many forms be prepared, Im about to mention some examples. If they hit home with you, then that feeling you get deep in your chest as I mention them, is the stress response! Ever cram for a final test Stay up all night with a fussy child? Late for work? Have a big presentation to give? Need to get four kids to seven different places after school in traffic (I raised my hand on this one!)? Been diagnosed with an illness? Cancer?Facing a move? Retiring? And the list goes on. And heres the thing depending on how you mentally respond, any situation could or could not be stressful.

Stress disrupts sleep and eating habits, alters hormones, increases risk of illness and accelerates aging just to name a few. Its like a bridle to a horse it has the ability to influence everything else in our lives. Tired all the time Its probably stress causing that or could at least be a significant factor. Heres a good way to test if stress is built into your daily routine are you reactive or proactive most of the day? Do you just put out small fire after small fire answering your phone every time in dings? Responding to email every 5 minutes? Starting several tasks but not completing any before something else pulls you away? If your response is yes, then youre reactive. This is the opposite of proactive, which is the key to carrying around less stress. Proactive is planning and then having a good idea of how your day/week/month/year will unfold. In a life where reactive is the norm, stress is the norm.

As I eluded to above, many times stress is a decision we make in our minds. I have a wonderful friend who, God bless her, turns everything, even a decision about whether or not to put sugar in her tea, into a live or die, extreme stress and life altering decision. She lives in this uber-stress zone that I dont even have enough mental capacity or energy to fathom! This is just cruising for an early heart attack!

Another part of moving towards minimizing stress is that its counter cultural. Just watch a few commercials the American culture is all about being driven, doing more, having more, never settling, and on and on. Dont get me wrong, there are some good caveats to American culture, but the undue stress it put on us through, most times, unachievable expectations is not one of them. Its the perpetual drive for more that breaks us eventually. Sometimes we just need to have an awareness of the moment we are in and be content in that. I think it would lead to less stress not to mention likely freeing our time up more for ourselves, our families, sleep, and whatever else we wanted to do that felt less stressful and more rewarding.

Ever had someone sneak up and scare you?! Ill admit, Im that dad who does it to his kids! That feeling you get is adrenaline from your adrenal glands. How about long term stress, like having a weekly office meeting where you have to present accomplishments? Cortisol is the longer-term hormone released from the adrenals to adjust to stress. How about when that runs out? Like when youre a mother of an infant and you get up with them 2-5 times (yes, that many times for those of you who havent had children yet!) per night for up to a year?! Thats when cortisol reserves are depleted and you move towards burnout or adrenal fatigue. Stress tells your body through all these phases to release fancy things like interleukin-6 and C-reactive protein which cause inflammation. Inflammation is the gateway to almost all the long term issue related to stress like heart disease, high blood pressure, lowered immunity (i.e you get sick more often), poor wound healing, weight gain, insomnia, fatigue and memory impairment.

Well, if I left you there, it would be depressing and add to your stress. Heres a list of just a few simple things you can do to lower your stress level and get back to what normal should feel like:

1. Get more sleep. Just turn the TV off sooner or put your phone down and do it. Youll feel better.

2. Wake up 5 minutes earlier and use that time for quiet reflection and/or to plan your day youd be amazed what a difference this makes!

3. Turn you phone off for part of the day. Heresy, I know! But 20 years ago, if you were driving somewhere for an hour and a half, nobody could reach you and the world didnt end, did it?

4. Schedule your priorities dont prioritize your schedule. Cheesy I knowbut catchy!

5. Get bored. Spend some time doing absolutely nothing ironically, youll get something out of it!

6. Prepare and cook a meal with a significant other. Its therapeutic and will enhance your relationship.

Thats just a few things. There are thousands of other applications. The challenge for you today is to be aware of stress in your life and pick 1-2 things to do to address it. Trust me, itll put a smile on your face!

Dr. Thomas is a board-certified physician who operates Complete Health Integrative Wellness Clinic and Thomas Urology Clinic in Starkville.

This newspaper column is for informational purposes only and is, under no circumstances, intended to constitute medical advice or to create or continue a physician-patient relationship. If you have a medical emergency, you should immediately seek care from your nearest emergency room, and if you have specific health questions, you should consult your own physician.

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Only read this if you're stressed - Meridian Star

Recommendation and review posted by simmons

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Cancer isnt something anyone wants to spend a lot of time thinking about, yet knowledge is power. When it comes to testicular cancer, acting early has huge implications.

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Recommendation and review posted by sam

Dr. Tennant always has some new diagnostic test or research study up his sleeve. Recently, he asked patients to participate in a new DNA study of genetic indicators not previously studied in rare diseases that involve chronic pain. Every new test and diagnostic tool reveals important information hormone panels, nerve conduction studies, blood tests for inflammatory biomarkers, and MRI images that may reveal the presence of adhesive arachnoiditis.

All of these diagnostic research efforts produce new insights. For example, in a study of over 100 intractable pain patients who require relatively high opioid doses, Dr. Tennant found that 91% of them had genetic defects that impacted their ability to metabolize medications, suggesting why they need higher doses for effective pain relief.

Another example is the growing understanding of the impact of pain on hormone levels. Severe chronic pain initially elevates hormones, but if uncontrolled for too long, hormone levels become depleted. Hormone levels that are too high or too low are biomarkers of uncontrolled pain, and indicate that higher doses of pain medications or hormone replacement may be necessary. Ongoing clinical research is a key element of Dr. Tennants approach to pain care.

In my visits with Louis to numerous pain doctors prior to finding Dr. Tennant, almost all of them said, The goal is to get you off those pain medications.

I was shocked when I first heard Dr. Tennant say, The goal is to relieve your pain.

Dr. Tennant has the expertise to see a patients pain and to ask the right questions. His discerning eye can distinguish between intractable pain patients and the few who come to the clinic seeking drugs for the wrong reasons.

Dr. Tennant understands that most patients have already tried and failed at many different pain treatments. When that is the case, he tries to determine what will work. The goal is to relieve pain so that the patient has a chance at meaningful improvement of function and quality of life. There is no demeaning treatment, there are no words said that convey doubt or suspicion, there are no looks that say, You must be a drug seeker. Dr. Tennants clinic is one of very few medical facilities I have visited where there was no evidence of stigma toward pain patients.

An important piece of Dr. Tennants philosophy is that if you effectively treat the pain, improvements in function and quality of life will follow. Dr. Tennant prescribes medication as needed to enable patients to effectively manage their pain, which in turn helps to stabilize their overall condition, while the underlying causes are identified and treatments are attempted. If a patients pain remains undertreated, the likelihood of successfully treating the underlying causes is greatly reduced.

The Institute of Medicines 2011 report,Relieving Pain in America,called for a cultural transformation in the way pain is understood, assessed, and treated. The characteristics I would seek in such a transformation of pain care are visible every day in Dr. Tennants clinic. I wish that other doctors who treat chronic pain could get outside the bounds of their particular specialties and professional societies to view their patients differently.

As Dr. Tennants research has moved forward, he has found that the majority of chronic pain patients who go to his clinic have 4 or 5 rare disease conditions: adhesive arachnoiditis, post-viral autoimmune disease, Reflex Sympathetic Dystrophy (also called Complex Regional Pain Syndrome), and connective tissue disorders such as Ehlers-Danlos Syndrome. All of these conditions are often accompanied by very severe, constant pain.

In the last few years, Dr. Tennant has made great advances in identifying and treating the underlying causes of intractable pain. He credits two recent scientific advances for enabling him to treat the causes rather than just the symptoms of pain. First, we now know that microglial cells within the central nervous system, once activated by a painful injury, disease or trauma, cause inflammation inside the brain and spinal cord. This neuro-inflammation causes chronic pain to centralize in the spinal cord and brain, resulting in severe pain that is constant.

Second, we now know that nerve cells may regrow, a process called neurogenesis. Certain neuro-hormones in the brain and spinal cord can promote neurogenesis when neuro-inflammation is reduced. Dr. Tennants approach is to reduce neuro-inflammation while simultaneously promoting neurogenesis. His protocols for treatment of neuro-inflammation are in their early stage, but they are already providing disease regression, enhanced pain relief, less suffering, and, for some patients, reduction in the use of opioids.

It is a true privilege to work as a volunteer in Dr. Tennants clinic. When I asked him in 2014 if I could be a volunteer, I had two specific reasons: to learn more so I could fight back against our insurance provider (who had suddenly decided to reduce the reimbursement for my husbands pain medications), and to educate myself so that I could become an effective advocate for chronic pain patients. We lost the battle with the insurance company, but I have certainly received an education that very few people have a chance to experience.

Dr. Tennants methods and approaches are not proprietary -- he's eager to share them.There are many good doctors out there who could learn to do what he does, instead of focusing solely on the treatment of pain as a symptom. It doesnt require a fancy clinic, lots of money, and corporate or university infrastructures. What it takes is a doctor who is truly committed to relieving pain and practicing the art of healing.

It is possible to manage pain with medicine instead of injecting the spine, inserting stimulators and pumps, or using other invasive procedures. Instead of treating pain with these modalities, treat and relieve the pain with medication, stabilize the patient, and search for the underlying causes so that they can be addressed.

At age 76, Dr. Tennant could have retired and given up his practice many years ago. Why does he put up with the many challenges of operating a pain clinic? Because he truly cares about helping people who are suffering.

Go here to read the rest:
Doctor Makes California Pain Clinic a Special Place Pain News ... - Pain News Network

Recommendation and review posted by Bethany Smith

SOUTH SAN FRANCISCO, CA--(Marketwired - June 29, 2017) - VistaGen Therapeutics Inc.(NASDAQ: VTGN), a clinical-stage biopharmaceutical company focused on developing new generation medicines for depression and other central nervous system (CNS) disorders, today reported its financial results for its fiscal year ended March 31, 2017.

The Company also provided an update on its corporate progress, clinical status and anticipated milestones for AV-101, its orally available CNS prodrug candidate in Phase 2 development, initially as a new generation treatment for major depressive disorder (MDD).

"With a team of industry experts and a focused strategy in place, we have established a strong foundation and embarked on paths to achieve several key catalysts within the next 18 months. We anticipate our first catalyst within the next 9 months as the NIMH completes its AV-101 Phase 2 monotherapy study in MDD, a study being conducted and fully funded by the NIH. Additionally, we are working closely with the FDA and our Principal Investigator, Dr. Maurizio Fava of Harvard University Medical School, on our AV-101 Phase 2 adjunctive treatment study in MDD, which we anticipate will begin enrollment in the first quarter of 2018 and be completed by the end of 2018, with topline results available in the first quarter of 2019," commented Shawn Singh, Chief Executive Officer of VistaGen.

In addition to MDD, AV-101 may have therapeutic potential in several other CNS indications where modulation of NMDA receptors, activation of AMPA pathways and/or active metabolites of AV-101 play a key role, including for treatment of epilepsy, as a non-opioid alternative for management of neuropathic pain, and to address certain symptoms associated with Parkinson's disease and Huntington's disease.

Mr. Singh continued, "Our MDD clinical program is our top priority, and will remain so. Additionally, however, recent peer-reviewed publications suggest that AV-101 may have significant therapeutic potential as a non-opioid treatment alternative for pain management. We are also excited about AV-101's potential to reduce dyskinesia associated with standard levodopa, or L-DOPA, therapy for Parkinson's disease, based on results from previous non-clinical studies. Without diverting our priority focus on MDD, we plan to expand our AV-101 Phase 2 clinical program during the next year to include these important CNS indications with significant unmet need."

"We are also pleased to have advanced our cardiac stem cell program during fiscal 2017, through both our participation in the FDA's CiPA initiative focused on using novel human stem cell models to predict cardiac toxicity of new drug candidates long before animal and human studies, as well as our exclusive sublicense agreement with BlueRock Therapeutics, an emerging force in cardiac regenerative medicine, founded and funded by Bayer AG and Versant Ventures. Our initial revenue-generating milestone with BlueRock Therapeutics was completed during fiscal 2017. We are optimistic about this relationship's potential and the future of cardiac regenerative medicine. We believe these significant events over the past year have positioned us to create substantial value for our stakeholders in fiscal 2018 and beyond."

Potential Near-Term Milestones:

Operational Highlights During Fiscal 2017:Achievements Related to Stem Cell Technologies

Advancement of AV-101 as a Potential, Non-Opioid Treatment Alternative for Chronic Pain

Bolstered Team with Industry Experts

Intellectual Property Accomplishments

Capital Market Highlights

Financial Results for the Fiscal Year Ended March 31, 2017:

Revenue for the fiscal year ended March 31, 2017 totaled $1.25 million and was attributable to a sublicense agreement with BlueRock Therapeutics, for certain rights to the Company's proprietary technologies relating to the production of cardiac stem cells for the treatment of heart disease.

Research and development expense totaled $5.2 million for the fiscal year ended March 31, 2017, an increase of approximately 33% compared with the $3.9 million incurred for the fiscal year ended March 31, 2016. The increase in year-over-year research and development expense was attributable to increased focus on development of AV-101, including preparations to launch the Phase 2 Adjunctive Treatment Study in MDD.

General and administrative expense decreased to $6.3 million in the fiscal year ended March 31, 2017, from $13.9 million in the fiscal year ended March 31, 2016, primarily as a result of the decrease in non-cash stock compensation expense, partially offset by an increase in non-cash expense related to grants of equity securities in payment of certain professional services during fiscal 2017. Of the amounts reported, non-cash expenses, related primarily to grants or modifications of equity securities, totaled approximately $3.1 million in fiscal 2017 and $11.9 million in fiscal 2016.

Net loss for the fiscal years ended March 31, 2017 and 2016 was approximately $10.3 million and $47.2 million, respectively, the latter amount including a non-recurring, non-cash expense of approximately $26.7 million attributable to the extinguishment of approximately $15.9 million carrying value of prior indebtedness, including then-outstanding Senior Secured Convertible Notes, and conversion of such indebtedness into equity securities between May and September 2015 at a conversion price (stated value of the equity received) of $7.00 per share.

At March 31, 2017, the Company had a cash and cash equivalents balance of $2.9 million. Since late-March 2017, the Company sold units consisting of unregistered common stock and common stock warrants to accredited investors in a self-placed private placement, yielding approximately $1 million in cash proceeds to the Company.

About VistaGen

VistaGen Therapeutics, Inc. (NASDAQ: VTGN) is a clinical-stage biopharmaceutical company focused on developing new generation medicines for depression and other central nervous system (CNS) disorders. VistaGen's lead CNS product candidate, AV-101, is in Phase 2 development, initially as a new generation oral antidepressant drug candidate for major depressive disorder (MDD). AV-101's mechanism of action is fundamentally differentiated from all FDA-approved antidepressants and atypical antipsychotics used adjunctively to treat MDD, with potential to drive a paradigm shift towards a new generation of safer and faster-acting antidepressants. AV-101 is currently being evaluated by the U.S. National Institute of Mental Health (NIMH) in a Phase 2 monotherapy study in MDD being fully funded by the NIMH and conducted by Dr. Carlos Zarate Jr., Chief, Section on the Neurobiology and Treatment of Mood Disorders and Chief of Experimental Therapeutics and Pathophysiology Branch at the NIMH. VistaGen is preparing to launch a 180-patient Phase 2 study of AV-101 as an adjunctive treatment for MDD patients with inadequate response to standard, FDA-approved antidepressants. Dr. Maurizio Fava of Harvard University will be the Principal Investigator of the Company's Phase 2 adjunctive treatment study. AV-101 may also have the potential to treat multiple CNS disorders and neurodegenerative diseases in addition to MDD, including neuropathic pain, epilepsy, Huntington's disease, L-Dopa-induced dyskinesia associated with Parkinson's disease and other disorders where modulation of the NMDA receptors, activation of AMPA pathways and/or key active metabolites of AV-101 may achieve therapeutic benefit.

VistaStem Therapeutics is VistaGen's wholly owned subsidiary focused on applying human pluripotent stem cell technology, internally and with collaborators, to discover, rescue, develop and commercialize proprietary new chemical entities (NCEs), including small molecule NCEs with regenerative potential, for CNS and other diseases, and cellular therapies involving stem cell-derived blood, cartilage, heart and liver cells.

For more information, please visit http://www.vistagen.com and connect with VistaGen on Twitter, LinkedIn and Facebook.

Forward-Looking Statements

The statements in this press release that are not historical facts may constitute forward-looking statements that are based on current expectations and are subject to risks and uncertainties that could cause actual future results to differ materially from those expressed or implied by such statements. Those risks and uncertainties include, but are not limited to, risks related to the successful financing, launch, continuation and results of the NIMH's Phase 2 (monotherapy) and/or the Company's planned Phase 2 (adjunctive therapy) clinical studies of AV-101 in MDD, and other CNS diseases and disorders, including neuropathic pain and L-DOPA-induced dyskinesia associated with Parkinson's disease, protection of its intellectual property, and the availability of substantial additional capital to support its operations, including the Phase 2 clinical development activities described above. These and other risks and uncertainties are identified and described in more detail in VistaGen's filings with the Securities and Exchange Commission (SEC). These filings are available on the SEC's website at http://www.sec.gov. VistaGen undertakes no obligation to publicly update or revise any forward-looking statements.

FINANCIAL TABLES FOLLOW

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VistaGen Therapeutics Reports Fiscal 2017 Financial Results and Provides Corporate Update - Markets Insider

Recommendation and review posted by sam

By Manisha Samy, ARK analyst

Discovered nearly thirty years ago in 1988[1], stem cell technology has failed to transform the field of regenerative medicine until now. After delivering only one treatment during three decades of development, stem cell technology could finally become the all-purpose tool for repairing the body, thanks to rapid and precise genome editing techniques such as CRISPR and TALENs. Several obstacles in stem cell technology- high costs, safety concerns, and bioethical considerations are beginning to fall away. In particular, the introduction of induced pluripotent stem cells (iPSCs) eliminated many of the initial bioethical concerns stirred by the the source of stem cells. Now, advances in genome-editing is accelerating the pace of progress.

Stem cells exist in a state of possibility. Two key markers of stem cells are 1) the ability to self-renew and 2). The ability to become any specialized cell. Broadly speaking, a stem cell can evolve into any of the ~200 specialized human cell types, as illustrated in Figure 1. Directing stem cells to become any one of the 200 cell types has proven challenging.

Moreover, before the introduction of iPSCs, which are derived from adult cells, most human stem cells were sourced from human embryos or cord blood. The political and ethical controversies surrounding embryonic research curtailed stem cell funding. As a result, after a quarter century of research, bone marrow transplantation is the only FDA-approved stem cell application in the United States.

Figure 1

Breakthroughs in cheap, rapid genome-editing have re-invogored momentum in stem cell research. As shown in Figure 2, the number of publications on PubMed mentioning both stem cells and gene-editing hit a tipping point upon the discovery of CRISPR in 2012, three years after the first instance of precise TALENs-based genome-editing in human cells. Based on the current trajectory, ARK estimates that the number of scientific publications including both genome-editing and stem cells will approach 300 this year, accounting for nearly 20% of the total number of publications.

Figure 2

As illustrated in Figure 3, while the discovery of iPSC cells in 2006 boosted stem cell research noticeably beginning in 2008, the introduction of CRISPR in 2012 has further catapulted the stem cell field, with combined gene-editing and stem cell publications taking share.

Figure 3

Why Is The Addition of Gene-Editing So Important to Stem Cell Research and Therapy?

Figure 4

Ultimately, CRISPR edited iPSCs should unlock the code to human disease at a cellular level. Three public CRISPR companies are in a good position for the impending stem cell revolution. Editas Medicine (EDIT) signed a stem cell pact with GlaxoSmithKline (GSK) and Biogen (BIIB) for next-gen stem-cell therapies; CRISPR Therapeutics (CRSP) CRSP),+Casebia+Therapeutics+Sign+Commercial+License+Agreement+to+MaxCyte/12664463.html" rel="nofollow">licensed a CRISPR delivery mechanism for blood stem cells and has formed a CRISPR joint venture with Bayer (BAYZF); and Intellia Therapeutics (NTLA) has partnered with biotech giant Novartis NVS to focus on stem-cell based therapies. These companies, among others, finally might unleash the limitless possibilities that stem cells once promised in regenerative medicine, extending human life spans considerably.

Notes

[1] The Weissman Lab at Stanford University first isolated hematopoietic (blood) stem cells from mice bone marrow in 1988; it would be another decade before human stem cells were isolated.

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The Stem Cell Revolution - Seeking Alpha

Recommendation and review posted by sam

Updated: Jun 30, 2017 - 11:30 PM

BOSTON - Its been nearly four years since a bone marrow donation saved Mandy Manocchios life, but the anticipation of the last few hours before she met the donor seemed like they took forever.

"When you hear that you have less than a year to live and your life's basically laying on the line and if I didn't find a donor it would've been catastrophic, but she's my angel, she said.

At Brigham and Women's Hospital in November 2013, Mandy had a bone marrow transplant to treat acute myeloid leukemia - on Friday night at The Harp in Boston she finally got to meet Magdelena Kruger, the woman who saved her life.

"She allowed me to watch my children grow up and have another, Mandy said.

Kruger had just landed after an 11-hour flight from Germany. When the two women saw each other there was no need for words.

Stem cells from Kruger were couriered 4,000 miles from Germany. Through a translator, she said it was the first time shed ever donated.

I just wanted to help somebody who's sick and needs help, she said.

Now both women are advocates for bone marrow donations. They say the process is relatively simple and life-changing on both ends.

"It's so rewarding to see that immediate result of how you can help somebody, Kruger said.

To learn more about bone marrow donation or to register as a bone marrow donor, please visit dkms.org.

2017 Cox Media Group.

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Embrace expresses more than words for marrow donor who saved woman's life - My Fox Boston

Recommendation and review posted by Bethany Smith

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Recommendation and review posted by Bethany Smith