StemCell Therapy

A rare disease is defined as any disease that affects a small percentage of the population. In the United States, a disease is classified as rare when fewer than 200,000 individuals are affected by it. According to the National Institutes of Health, there are approximately 6,500 to 7,000 known rare diseases affecting an estimated 25 million Americans.

One of these is Loeys-Dietz Syndrome (LDS), a disorder of connective tissue that can affect blood vessels, including the aorta, as well as bones, joints, cognitive ability and internal organs.

Here, Michigan Medicine cardiologist Marion Hofmann, M.D., who typically treats 10 to 15 Loeys-Dietz patients each year, sheds some light on this complex rare disease.

LDS is caused by a mutation in the TGFBR1, TGFBR2, SMAD3, TGFB2 or TGFB3 genes, as we know today. More could be identified in the future.

Loeys-Dietz Syndrome is a genetic condition, but not always inherited. In patients with the condition, we usually recommend genetic testing of the parents and siblings to see if it is inherited or if it is a new mutation. If the parent or siblings of a patient diagnosed with LDS do not test positive for the genetic variant, we assume the variant is present for the first time in one family member. This occurs in approximately 75% of LDS cases. There is a 50% chance the gene will be passed on regardless of whether LDS was inherited or a first time mutation.

Because relatively common symptoms can camouflage LDS, the condition may go undiagnosed until a serious complication occurs. Patients might be diagnosed with Loeys-Dietz after an aortic aneurysm (a weakened or bulging area on the wall of the aorta) is found on a CT scan or echocardiogram, or after experiencing a life-threatening aortic dissection (a tear in the inner layer of the aorta) or a dissection in other arteries. If a patient experiences either of these vascular conditions, we would likely suggest genetic testing to determine if Loeys-Dietz Syndrome was the cause.

In approximately 20% of patients experiencing an unexplained aortic dissection, we find gene abnormalities, including LDS, that predispose to aortic disease.

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Some patients, but not all, are diagnosed because of certain skeletal characteristics that point to Loeys-Dietz. These include a chest wall deformity in which the chest wall pushes outward or appears sunken, scoliosis, long and slender fingers, flexible joints, flat feet, translucent skin, abnormal scarring of the skin and a bulging or widening of the spinal sac surrounding the spinal cord. However, the spectrum of the disease is very broad and were finding that not all LDS patients exhibit these characteristics.

Genetic testing confirms a suspected LDS diagnosis. Other similar disorders such as Marfan Syndrome and Ehlers-Danlos Syndrome can present similar characteristics, so genetic testing is important to differentiate these disorders. In recent years weve realized just how complex LDS is. As clinical genetic testing is more commonly used, diagnostic accuracy for LDS has improved and were learning more about how LDS presents. For example, were finding that family members carrying the same mutation are affected differently. Cardiac and genetic evaluation of all family members is important for patients with LDS to identify other relatives at risk for the condition.

Patients with Loeys-Dietz need regular checkups and vascular imaging to identify high-risk situations that could lead to aortic dissection. We recommend medication to avoid high blood pressure, which puts stress on weakened areas of the aortic wall, lifestyle modifications and preventive surgery to treat aortic aneurysms deemed to be at high risk for dissection. Patients with LDS are typically prescribed beta blockers or angiotensin receptor blockers.

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Anyone experiencing an aortic dissection or an aneurysm requires lifelong care as they are more likely to have a future event. Patients with LDS require special counseling for family planning and during pregnancy.

Additional information comes from nationwide patient support groups and their symposiums. The U-M Frankel Cardiovascular Center, in collaboration with the Marfan Foundation, is hosting the Detroit regional symposium for Marfan Syndrome and related disorders on April 25, 2020.

Weve been able to gain important knowledge about LDS and other aortic-related conditions through worldwide collaboration of researchers interested in LDS and aortic dissection in general. The International Registry on Aortic Dissection was launched in 1996 and the Montalcino Aortic Consortium was formed in 2013 to collect and share information about the genetic causes of aortic dissection. The next GenTAC Aortic Summit, which is committed to advancing research, education and treatment of heritable aortic diseases, will be held October 10 and 11, 2020, in Ann Arbor, Michigan, and will be hosted by Michigan Medicine cardiologist Kim Eagle, M.D. Through these resources, were learning more about the condition and gaining insight into diagnosis and treatment advancements.

Importantly, 10-20% of patients with a history of what was thought to be sporadic or unexplained aortic dissections actually have an identifiable genetic cause, including LDS. Being able to pinpoint the genetic causes of disease is very powerful. It allows health care providers to use a gene-based medical management strategy, which is the goal of personalized medicine. Genetic counseling and potentially genetic testing is very important for family members of patients with unexplained aortic dissections as well as with Loeys-Dietz Syndrome.

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Loeys-Dietz Syndrome A Rare and Complex Heart Disease - University of Michigan Health System News

Updated: May 25, 2018:

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The California Genetic Information Privacy Act: How This Proposed Legislation Fits in the California Privacy Regulation Framework - JD Supra

Its long been thought that some people find exercising easier than others.

While some will happily jog off to the gym, others are left daunted by the prospect of doing anything that might cause perspiration or shortness of breath.

This might not just be a theory after all.

Scientists have found a link between certain genes and a persons ability to exercise efficiently.

Read more: Vogue Williams shared post-baby exercise tips

The research, which was published in the New England Journal of Medicine, discovered a genetic mutation in some people which made it harder for them to workout.

The genetic mutation can affect cellular oxygen sensing which is linked to a persons ability to exercise effectively.

The team involved in the research - which included researchers from King's College London - found that people with the gene had reduced rate of growth, persistent low blood sugar, a limited exercise capacity and a very high number of red blood cell.

In order to try to figure out why people with a limited exercise capacity behaved the way they did, the researchers tested one case study.

Read more: The top rated fitness trackers

After numerous tests - which included a genetic analysis and high-altitude testing - the scientists discovered that the mutated gene in question was the von Hippel-Lindau (VHL) gene.

The VHL gene plays an important role in our genetic make up, primarily because it helps our cells survive when our ability to take in oxygen is reduced.

The scientists found that the VHL gene was impaired in some people who struggle to exercise.

Thats because this gene is linked to the mitochondria and when the mitochondria isnt firing on all cylinders - which is the case in people with a mutated VHL - then it makes it harder to exercise.

Read more: Experts say we should walk during our lunch breaks

Dr Federico Formenti, School of Basic & Medical Biosciences, one of the leading authors of the study, said: The discovery of this mutation and the associated phenotype is exciting because it enables a deeper understanding of human physiology, especially in terms of how the human body senses and responds to reduced oxygen availability.

It also goes a long way to explain why some people can train and run a marathon whilst others would struggle with training, even if they were mentally motivated enough to complete it.

More research will need to be done in order to determine just how much this gene can affect people, but its a great step in the right direction for the study of human physiology.

See the original post:
Blame it on your genes - a genetic mutation reduces the ability to exercise - Yahoo Lifestyle

Written by Jesse Saffron, Ph.D., National Institute of Environmental Health Sciences. Used by permission

The reality is that today, we still dont have a treatment that slows or alters the progression ofParkinsons disease, saidDavid Standaert, M.D., Ph.D.

In 1817, James Parkinson published An Essay on the Shaking Palsy, describing the disease that now bears his surname. The British surgeons proposed treatment bloodletting proved ineffective, and the intervening two centuries led to no breakthroughs for patients.

The reality is that today, we still dont have a treatment that slows or alters the progression ofParkinsons disease, saidDavid Standaert, M.D., Ph.D., during a Jan. 8 talk at the National Institute of Environmental Health Sciences. He is chair of the Department of Neurology at the University of Alabama at Birmingham. We can help patients function better, but were not changing the underlying nature of the disease.

Parkinsons disease is complex, involvinggenetic and environmental factors, and their interaction.Guohong Cui, M.D., Ph.D., head of the NIEHS In Vivo Neurobiology Group, invited Standaert to discuss the role immunity plays in the disorder. Both researchers seek to discover ways to slow advancement of the condition and make it less severe.

Dr. Standaert is an established researcher in the Parkinsons field, which is one of the major areas my lab works in, Cui said. His team examines how pesticides interact with genetic factors associated with the disease and ways to slow dopamine loss, which is a hallmark of the disorder.

At UAB, Standaert directs the Morris K. Udall Center of Excellence in Parkinsons Disease Research, one of eight such centers funded by theNational Institute of Neurological Disorders and Stroke. One of his research questions is whether immune system responses to a protein called alpha-synuclein trigger neurodegeneration.

Alpha-synuclein is a cornerstone of research in Parkinsons disease, Standaert told the audience. It is a small protein present in high levels in neurons throughout the brain. It participates in virtually every form of the disease, whether through mutation, overexpression or aggregation, which is probably the most common mechanism.

Abnormal forms of alpha-synuclein may activate immune cells in the brain, leading to inflammation that drives progression of the disorder.

For many years, it was said that this is a degenerative disease and cells are dying, so, of course, theres inflammation, he said. I think in the last few years, weve turned this around and realized that the inflammation may come first, as part of a process that leads to degeneration.

When mutated, the LRRK2 protein can worsen problems caused by alpha-synuclein. It is one of the most common genetic causes of Parkinsons. In our clinic, about 2 to 3 percent of patients have LRRK2 mutations, he noted. Those mutations may cause Parkinsons by cranking up sensitivity of the immune system they may increase the magnitude of the response to alpha-synuclein.

But other factors bear consideration. To study the mechanisms responsible for Parkinsons disease, there is a need for model systems that replicate the effects of environmental toxins, Standaert said. He highlighted research by NIEHS grantee Briana De Miranda, Ph.D., of the University of Pittsburgh. She studies, among other things, how organic solvents may boost susceptibility to Parkinsons disease in individuals with LRRK2 mutations.

Standaert says the fact that inflammation may cause the disorder to advance more than it otherwise would means that anti-inflammatory drugs could hold promise. We have immunologic treatments for a lot of other diseases, such as inflammatory bowel disease, psoriasis and multiple sclerosis, Standaert said in an interview. Could we use one of those or something similar in Parkinsons disease to slow its progression?

See original here:
Parkinson's driven by inflammation, genetics and the environment - UAB News

Genetic matchmaking is entering the mainstream. The prospect of meeting and selecting potential romantic partners based upon purported DNA compatibilityuntil very recently the subject of science fiction from films like The Perfect 46 to independently published romances by Clarissa Lakehas increasingly garnered both scientific and commercial attention. Earlier this year, Nozze, a well-established Japanese dating service, established a DNA Matching Course and hosted a related DNA Matching Party, both first-time offerings in that nation. For 86,400 yen ($790), men are paired with prospective dates based upon 16,000 variations in HLA gene complexes.

Nozze joins a market commercializing the science of attraction that already includes Swiss pioneer GenePartner, Houston-based Pheramor and services that combine genetic and non-genetic profiles like Instant Chemistry and SingldOut. Considerable media attention has been devoted to investigating the science behind these services; unfortunately, both the ethical and sociological implications have received relatively short shrift.

The underlying science itself is hardly convincing. Since the 1970s, researchers have found that variations in the genes of the major histocompatability complex (MHC) play a role in mate selection in mice. Similar patterns have subsequently been found in fish, pheasants and bats, but not in sheep. The possibility that MHC plays a role in human mate selection first arose as a result of a well-known experiment by Swiss biologist Claus Wedekind that is colloquially known as the sweaty T-shirt study. Researchers had men wear T-shirts for extended periods of time before placing the shirts in boxes; then they had women sniff the shirts to rate the former wearers sexual attractiveness. They found an inverse correlation between MHC similarity and attraction score.

Since that time, studies in human beings have yielded mixed results. The most persuasive data come from an investigation of Hutterite couples in North America who appear to display nonrandom MHC assorted mating preferences. But this correlationgiving genetic matchmaking the benefit of the doubtestablishes at most a natural preference, and a natural preference is a far cry from connubial compatibility. To our knowledge, nobody has actually surveyed married Hutterite couples to determine whether MHC compatibility plays a role in their levels of marital bliss, or the quality of their dinner conversation, or the frequency of their escapades between the sheets. On a more global scale, no data have yet established a relationship between MHC compatibility and lower divorce rates.

One must ask precisely what we mean by compatibility. At the most fundamental level, couples with MHC-dissimilarity (and thus more so-called mating compatibility) demonstrate lower rates of spontaneous abortion. The dissimilarity may also increase genetic polymorphism, which in turn may lower the manifestation of recessive diseases. However, the impact of MHC-dissimilarity on either of these phenomena is likely to prove relatively small, and therefore should not be expected to play a significant role in the marital happiness or cohesion of many couples.

In addition, genetic polymorphism may help species survive environmental challengesyet evolutionary advantage is probably not a major variable that most couples consider when seeking romantic bliss. One cannot also ignore the unknowns: Matching couples based on MHC markers may pose some survival benefits, but nobody knows at what cost; it is theoretically possible that the offspring of such couples are also more aggressive or less creative, just to name two traits arbitrarilyand magnifying these effects artificially might prove significantly deleterious to our civilization in the long run.

Harvard geneticist George Church has championed another version of compatibility. Using whole genome sequencing, he hopes to match couples so as to reduce or eliminate many recessively inherited diseases. In Ashkenazi populations, the Committee for Prevention of Jewish Genetic Diseases (better known as Dor Yeshorim) already uses a voluntary testing and matching system to prevent disorders such as Tay-Sachs, Canavan and Niemann-Pick. Church hopes to implement a variation of this program for couples everywhere, claiming it could end some 7,000 genetic diseases and save 50 million lives a year.

The ethical implications of Churchs proposal are complex. If couples are encouraged to use his pairing system, then those who find love outside the realm of genetic matchmaking and produce offspring with genetic disorders may be unfairly stigmatized. At a more practical level, even if the elimination of recessive illnesses is a social good, it is clearly not the sort of compatibility most daters seek in a matchmaking service.

When most people speak of romantic compatibility, the odds are that they mean factors like temperament, tastes and interests. To date, no study has connected these with any genetic variable. MHC-dissimilarity is as likely to lead to partners with temperamental and aesthetic difference as to those with similarities. Ironically, even compatibility appears to have minimal impact on satisfaction in relationships. Multiple studies have shown that universal traits such as kindness, rather than similarities, are the keys to marital happiness.

Genetic matchmaking reflects two concerning trends in modern society. The first is the pandemic loneliness and search for connection that has arisen in the wake of the breakdown of traditional community structures. To use a metaphor first introduced by political scientist Robert Putnam, we are a society bowling alone. We are increasingly willing to shell out a few hundred dollars or a few thousand yen for anything that smacks of a cure.

Genetic matchmaking also manifests the misguided belief that science can solve all of our problems. Unfortunately, we cannot discover, pay or invent our way out of our isolation. Science may ultimately provide tools that help us rebuild societal cohesion, but without meaningful changes in social policy and human behavior, science alone has little to offer. In this case, the science in question is, at best, being misusedand arguably not science at all.

Here is the original post:
The Illusion of Genetic Romance - Scientific American

At-home DNA testing companies 23andMe and Ancestry each laid off about 100 employees over the past month, cutting around 14 and 6 percent of their workforces, respectively.

23andMe pointed to declining sales as the reasons for the layoffs, and Ancestry CEO Margo Georgiadis cited a slowdown in demand across the entire DNA category in a blog post. Interest in DNA testing skyrocketed through 2016, 2017, and 2018, with millions of people buying kits from direct-to-consumer companies. But in 2019, interest started to wane Illumina, which makes products used by these companies, said that the market was weak.

Thats probably because the market is saturated, and most people who would want to buy a DNA test kit already have, says David Mittelman, founder and CEO of the forensic genomics company Othram and former chief scientist at Family Tree DNA. That market is a certain size, and its being tapped out, he says.

It may also just be that all of the early adopters have bought and used DNA testing kits, says Shawn Baker, a genomics consultant and former scientist and manager at Illumina. They need to broaden out past the early adopters to everyone else, he says.

Compounding the problem, the service doesnt lend itself to repeat customers. You get tested once and youre done, Baker says. Theres also no real reason for users to return to the platform, except to see if any previously unknown or distant relatives have joined the service. But even then, the companies dont see additional revenue.

23andMe CEO Anne Wojcicki speculated that genetic privacy concerns could be one reason for the dip in sales. But Mittleman doesnt think that plays a big role. Im sure some people are worried about privacy, he says. I think people are burned by privacy more with Facebook than with genetic testing. Thats what they worry about.

23andMe and Ancestry did not respond to an emailed request for comment.

Ancestrys growth was also linked to their advertising spending they spent over $100 million on television ads in 2016, for example. Their growth was proportional to their spending, but thats since plateaued, Mittelman says. Acquiring more customers, who arent already inclined to be interested in existing products, would be expensive, he says.

But bringing in more customers for personal testing kits may no longer be the priority at these companies: instead, theyre turning their focus towards health. Ancestry says its shifting focus towards Ancestry Health, and plans to introduce new products that give customers information about their health risks. 23andMe plans to concentrate its research on a drug development arm, which has already proven lucrative: it started partnering with pharmaceutical companies in 2018, and in January, the company sold the rights to a drug it developed in-house.

The companies may want to keep pulling in customers to bolster their databases of genetic information, Baker says. Subscriber growth matters in terms of how good that database is.

But over the past few years, both companies have built up their databases of genetic data, and they may already be large enough to answer health care questions. These databases only need so much information before they can be useful to researchers and drug developers. If theyve reached that point, and it will take expensive marketing and advertising to pull in new customers, it might not be worth the investment to try and expand the pool, Mittelman says.

From the outside, that seems to be what the situation is, he says. You dont see 23andMe running sales trying to get people on board. Its not the priority.

Excerpt from:
Layoffs at genetic testing companies reflect the changing market - The Verge

As to diseases, make a habit of two things to help, or at least, to do no harm.

Hippocrates

The increasing ability of human beings to treat formerly lethal diseases has had a massive effect on the quality of our lives over the past century. However, many damaging genetic diseases such as Tay-Sachs and cystic fibrosis have remained outside of this pattern.

While certain drugs and treatments for these conditions do exist, they only can ameliorate the symptoms, not cure them.

Yet, the fact that the genomics industry is working to remedy this situation by developing gene-editing tools like CRISPR also provides new opportunities for investors. For instance, the ARK Genomic Revolution ETF (BATS: ARKG) provides investors with exposure to companies around the world that are involved in the genomics revolution, regardless of sector.

As of right now, most of its holdings are in U.S health care companies, most of which (71.93%) are in the biotech sector. Its other top sectors include advanced medical equipment and technology (12%), medical equipment, supplies and distribution (6.49%), health care facilities & services (4.21%) and pharmaceuticals (4.13%).

Its top holdings include Invitae Corp. (NYSE: NVTA), Illumina, Inc. (NASDAQ: ILMN), CRISPR Therapeutics AG (NASDAQ: CRSP), Intellia Therapeutics, Inc. (NASDAQ: NTLA), Compugen Ltd. (NASDAQ: CGEN), Editas Medicine, Inc. (NASDAQ: EDIT) and Teladoc Health, Inc. (NYSE: TDOC).

This funds performance has been solid in both the short run and the long run. As of February 10, 2020, ARKG is up 4.70% over the past month and up 19.95% over the past three months. It currently is up 6.59% year to date.

The fund currently has $514.19 million assets under management and an expense ratio of 0.75%, meaning that it is more expensive to hold in comparison to other ETFs.

Chart courtesy of http://www.StockCharts.com

While ARKG does provide an investor with a chance to profit from the world of genetics, the sector may not be appropriate for all portfolios. Interested investors always should conduct their due diligence and decide whether the fund is suitable for their investing goals.

As always, I am happy to answer any of your questions about ETFs, so do not hesitate to send me an email. You just may see your question answered in a future ETF Talk.

Here is the original post:
Accessing the World of Genetics - Stock Investor

Dwarf woolly mammoths that lived on Siberia's Wrangel Island until about 4,000 years ago were plagued by genetic problems, carrying DNA that increased their risk of diabetes, developmental defects and low sperm count, a new study finds.

These mammoths couldn't even smell flowers, the researchers reported.

"I have never been to Wrangel Island, but I am told by people who have that in the springtime, it's just basically covered in flowers," study lead researcher Vincent Lynch, an assistant professor of biological sciences at the University at Buffalo in New York, told Live Science. "[The mammoths] probably couldn't smell any of that."

Related: Mammoth resurrection: 11 hurdles to bringing back an ice age beast

Wrangel Island is a peculiarity. The vast majority of woolly mammoths died out at the end of the last ice age, about 10,500 years ago. But because of rising sea levels, a population of woolly mammoths became trapped on Wrangel Island and continued living there until their demise about 3,700 years ago. This population was so isolated and so small that it didn't have much genetic diversity, the researchers wrote in the new study.

Without genetic diversity, harmful genetic mutations likely accumulated as these woolly mammoths inbred, and this "may have contributed to their extinction," the researchers wrote in the study.

The team made the discovery by comparing the DNA of one Wrangel Island mammoth to that of three Asian elephants and two other woolly mammoths that lived in larger populations on the mainland.

"We were lucky in that someone had already sequenced the [Wrangel mammoth's] genome," Lynch said. "So, we just went to a database and downloaded it."

After comparing the mammoths' and elephants' genomes, the researchers found several genetic mutations that were unique to the Wrangel Island population. The team had a company synthesize these tweaked genes; then, the researchers popped those genes into elephant cells in petri dishes. These experiments allowed the researchers to analyze whether the proteins expressed by the Wrangel Island mammoth's genes carried out their duties correctly, by sending the right signals, for instance, in the elephant cells.

The team tested genes involved in neurological development, male fertility, insulin signaling and sense of smell. In a nutshell, the Wrangel Island mammoths were not very healthy, the researchers found, as none of those genes carried out their tasks correctly.

That said, the study looked at only one Wrangel Island mammoth, so it's possible that this individual's comrades didn't have similar genes. But "it's probably unlikely that it was just this one individual that had these defects," Lynch said.

In fact, the case of the Wrangel Island mammoths is a cautionary tale about what can happen to a population that is too small and therefore lacks genetic diversity, he said.

The findings build on those from a study published in 2017 in the journal PLOS Genetics that found that the Wrangel Island mammoth population was accumulating damaging mutations.

The new study was published online Feb. 7 in the journal Genome Biology and Evolution.

Originally published on Live Science.

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The last woolly mammoths on Earth had disastrous DNA - Livescience.com

It was funny once. The perfectly square bit of dirt on the window. The shocked reactions of Craggy Islands Chinese community. The local farmer who doesnt have much time to be a racist, because he just likes to have a cup of tea in the evening. The feckin Greeks

Dermot Morgans finest televisual moment that evocation of Nazi speech-making in front of the greatest window in comedy is perhaps a little less funny now that prime minsters or presidents of Hungary, Turkey, the United Kingdom and the United States are happy and comfortable to spout racist statements, and not merely get away with it but be applauded for it by their supporters.

How have we reached this point? Its the very question asked by geneticist and broadcaster Dr Adam Rutherford. Hes the Rutherford in the BBCs popular radio programme The Curious Cases of Rutherford and Fry, in which he and Dr Hannah Fry try to solve listeners scientific queries.

In the case of the resurgence of publicly acceptable racism, Rutherford decided that a radio show was insufficient and that a book would be needed. How to Argue with a Racist is published this week, and Rutherford will be delivering a lecture on the subject during the Northern Ireland Science Festival.

So, how did we get back here? I find myself asking the same question, Rutherford says. I find myself in lectures thinking how strange it is that Im now talking about this, because these are mostly questions that were parked, in my field genetics years ago. Maybe decades ago. And we keep discovering interesting things about evolution and population differences, and migration, and so on, but the question of how race as a concept relates to biological diversity, that ended a while back.

Having these conversations in the academy is one thing, but as someone who tries to communicate science, to talk about it, as a broadcaster and as a writer, I found I was suddenly having very different conversations. Conversations about race, when we were talking about ancestry In some ways, science has failed to convey to the public what is correct, and so I want to equip people with what current scientific thinking is, so that when the question comes up, they have the tools to respond. To say, Yes, there hasnt been a white man in the Olympic 100m final since 1980, but no thats not because of any lack of African-American ancestry.

Its precisely that sort of casual, inauspicious racism that Rutherford looks to quash with his book. The idea that Olympic athletes with African heritage are somehow better because their genes are imbued with extra strength is rubbish, he says. For a kick-off, using athletes as a test sample is a daft idea because anyone with the sort of genetic gifts that allow them to perform at the highest level is a poor sample of what a broader population is like. Beyond that, theres a simpler rebuttal if those with African heritage are inherently genetically better at running very quickly than others, then where are the Olympic 100m champions from South America, Europe or elsewhere with populations that can trace heritage to Africa?

Besides, tracing your genetic lineage in that manner, looking for secrets and answers to why you are so underprivileged compared with others, is a nonsense, says Rutherford. I do think that part of the change in culture which means I kind of had to write this book is to do with the rise of nationalism and the more open discussion of race. Certainly there are more open discussions of public racism than at any point I can remember in my lifetime. There are other factors, though, such as the rise in genetic ancestry testing kits. Now, theyre not pernicious in themselves, but I argue that they have fostered a misunderstanding of what genetics means, and specifically in the form of a sort of reversion to essentialism. So a notion that were determined by our genes and our ancestry, which as a geneticist I just dont think are scientifically valid nor verifiable to the extent that people adopt them.

So, when you take one of these tests and it comes back saying that youre 10 per cent Swedish, or 15 per cent Irish, these are very broad strokes, that are not scientifically meaningless, but they are of only trivial relevance. But people attribute very great significance to them. For instance, I sometimes talk about the fact that, genetically speaking, there is no such coherent ancestral group as Celts. But try telling that to an audience in Glasgow and see what happens.

Over in Ireland youve got some of the best genetic genealogists in the world, people like Dan Bradley [head of the school of genetics at Trinity College Dublin] who has been tracking the story of the Irish for years, and thats really important work, its important to understand the movement of peoples and the migration of peoples. But theyre always complex. Ancestry is a matted web, not linear family trees.

For example, I have a friend who told me that hes descended from Niall of the Nine Hostages, and they can trace their ancestry back to him. Well, theres two things about that. One, no one is actually really sure if Niall of the Nine Hostages existed, which is problematic for a starter.

The second thing, though, is that if he did exist, he lived in the fourth or fifth century, and thats a date which comes before the isopoint, which is the time at which everyone in Europe is descended from everyone else. So if Niall did exist, and if my friend Bill is directly descended from him, then so too am I. And so are you. And so is a guy in southern Italy, and in Turkey, and literally everyone else in Europe. So if you can attach some kind of tribal identity to that, that idea that youre descended from some fifth-century Irish king, well everyone else is too.

This is a relatively recent revelation. One that has the power to stun those who claim kinship with any royal lineage, or who might have notions of racial purity. The simple, genetic, fact is that your family tree isnt a neat family tree at all. Its more like an overgrown shrub, especially the farther back you go. And because everyone elses is, too, it means that the family shrubs intertwine and merge until, once you go back a surprisingly few generations, were all related to everyone else.

Thus the late actor Christopher Lees claim to be directly descended from Charlemagne is accurate, but also meaningless. Not everyone can prove it using family trees. Christopher Lee could, because he was the descendent of an Italian contessa, so they had the paper trail of her family going back. The whole Danny Dyer story, which showed that he was a direct descendent of Edward III, they were able to paper-trail that too, and very few people can actually do that, but I calculated out a mathematical proof that anyone with long-standing English heritage is also 100 per cent descended from Edward III.

At which point I suggest that we should use our now undisputed and mathematically proven royal lineage to, shall we say, take back control, but Rutherford politely declines my invitation to insurrection. The point is, of course, more profound than working out where you stand in line for a throne. Its the fact that every white supremacist has, if you trace their genetic code back, African ancestry. Every Nazi has Jewish heritage. Every Briton is a mish-mash of European bloodlines.

The problem, of course, is that while all of this science is correct and provable, its also useless in the face of racism. As someone once said: You can argue with a racist; you can argue with a Labrador retriever, too, for all the good it will do you.

Rutherford agrees, but says theres a more important battle, on two fronts, to be fought. Part of the book discusses actual neo-Nazis and white supremacists, because they are obsessed with genetics. And their misunderstanding of genetics makes them think that they can prove some sort of racial purity, which is a nonsense. Arguing with those guys using science is a demonstration of the old Jonathan Swift maxim that you cant reason someone out of a position that they didnt reason themselves into, he says.

Who Im really interested in reaching, though, are those who arent racists, and who dont think like that. But because of relying on stereotypes, or myths, or the cultural sphere that says that race is real, or that some factors are biologically encoded and that those factors segregate by race, I want those discussions to be the ones that are informed by science. Because those people arent fundamentally racist, so when youre armed with facts, and youre armed with a knowledge of history, then I think that is your best route to change. Science is a powerful ally, its the best ally we have, I think. But whats the Bob Dylan line? I know my song well before I start singing.

One of the ideas I explore is that scientists need to get more involved. Its no longer good enough to simply say: Heres the data and let society decide. Racists have no such compunctions, and will use every tool at their disposal to spread their message. So if we. as scientists, sit back and say, Hey, its just the data and I dont know what the political ramifications are, thats for others to discuss, then were volunteering ourselves to defeat, and for our voices to be silenced in favour of populist, emotive arguments, and thats the political landscape in which we now live.

Racism isnt wrong because its drawn from and based on a misunderstanding, or specious scientific ideas. Racism is wrong because its an affront to basic human dignity. What Im saying is, if you want to be a racist, fine, fill your boots, go ahead, but you cant have my scientific tools, my weapons, to justify your position.

How to Argue with a Racist by Adam Rutherford is published by Orion. Northern Ireland Science Festival runs February 13th-23rd. nisciencefestival.com

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How to turn racists genetic arguments against them - The Irish Times

The US Department of Agriculture (USDA) released new information regarding feed use and livestock production in Mexico in a report from the Foreign Agricultural Service (FAS) on Friday.

Increasing livestock production in Mexico has been supported by the movement toward vertical integration in production and improved biosecurity, the FAS reported. Stable feed prices and better zoo-sanitary conditions suggest that the expansion will continue.

Feed price consistency has allowed livestock breeders to seek better genetics, the agency said.

Feed prices did slightly fluctuate in the last two quarters of 2019, but industry expects overall grain and feed price stability to prevail through 2020, the agency said. The stability in feed prices as well as steady domestic livestock prices allow producers to focus their operations more on breeding than slaughtering.

In marketing year (MY) 2020, beef production is expected to reach 2.1m metric tons (MT) and consumption is expected to reach 1.9m MT, the FAS said. Industry growth from 2015 through 2019 averaged about 2% annually, despite changes in prices for feed and grains.

The Mexican beef industry has kept a steady pace of investments, adaption of new and improved production practices, as well as improved technology to stimulate the beef production sector, the agency said.

Swine production in MY 2020 is anticipated to be a 20.3m head based on increasing consumer demand and supported by vertical integration of producers, the agency said. Pork production is forecast to reach 1.47m MT.

According to industry studies, pork consumption has increased as a share of domestic consumption from 28% to close to 32%, with poultry retaining the biggest share at over 60%, the agency said.

During the 2018-19 export cycle, Mexicos exports of cattle to the US reached 1.313m animals an increase of 17.6% from the previous year, the FAS said. Trade has been valued at more than $760m.

Trade is expected to continue expanding, if more slowly, during MY 2020, the agency said.

A pilot program has been established to regulate trade and improve zoo-sanitary status in live cattle coming in from Guatemala, the agency said. The agreement emphasizes that cattle to be exported from Guatemala will come from ranches certified by the Ministry of Agriculture of Guatemala (MAGA) as free of bovine tuberculosis and brucellosis, which will be tagged with the Central American Electronic Earring and utilizes radio reference technology.

Personnel from MAGA and the International Regional Agency for Agricultural Health (OIRSA) will verify the fulfillment of a 21-day quarantine of cattle at the ranch of origin or in the feedlots constituted for it, FAS said. Currently, 70 ranches in Guatemala have been certified, and the program is set to run through November 2024.

Beef imports in MY 2020 are expected to increase to 212,000 MT, the agency said. The United States remain the main beef provider to Mexico with 86% market share, followed by Canada with 7.5%, and Nicaragua with 4.7%.

Exports of beef in MY 2020 are forecast to increase by 10% and reach 347,000 MT, the FAS said. Expanding the use of feedlot-based production is one factor supporting the increased exports.

Japan is consolidated as the second most important export market for Mexican beef, comprising 7% of Mexicos beef exports, followed by Hong Kong with 4%, the agency said. For many years, South Korea was the third most important Mexican beef export destination, but now holds the fourth position with 2% of market share.

On the swine side, the forecast for MY 2020 calls for live hog imports of 41,000 head and pork imports of 1m MT, the agency said. Mexico is dependent on imports to meet domestic demand, but imports have been slow based on the countrys economy.

In MY 2020, imports will rise compared to their low in 2019, as pork consumption continues its positive trend and growing exports to China compete with domestic consumption, the FAS reported.Mexico will resume imports from the United States in order to satisfy the domestic demand.

Pork exports are predicted to reach a record 250,000 MT as Mexico focuses on supplying Asian markets, the agency said.

Mexican pork exports have grown considerably through 2019, especially to Japan, the agency said.The trend will continue as the industry is expecting an important growth of exports for 2020, especially to China.

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Mexico: Feed prices allow for production growth, genetic focus - FeedNavigator.com

Kiyohiro Yamazaki,1 Yuta Yoshino,1 Kentaro Kawabe,1 Tomomasa Ibuki,1 Shinichiro Ochi,1 Yoko Mori,1 Yuki Ozaki,1 Shusuke Numata,2 Jun-ichi Iga,1 Tetsuro Ohmori,2 Shu-ichi Ueno1

1Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Toon, Ehime 791-0295, Japan; 2Department of Psychiatry, Course of Integrated Brain Sciences, Medical Informatics, Institute of Health Biosciences, the University of Tokushima Graduate School, Tokushima 770-8503, Japan

Correspondence: Jun-ichi IgaDepartment of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, JapanTel +81-89-960-5315Fax +81-89-960-5317Email iga.junichi.it@ehime-u.ac.jp

Introduction: Although ATP-binding cassette sub-family A member 7 gene (ABCA7) is known to be associated with Alzheimers disease, the relationship between ABCA7 and schizophrenia has been unknown.Methods: Schizophrenia patients (n = 50; 24 males, 62.1 0.50 years old) and age- and sex-matched healthy controls (n = 50) were recruited for the mRNA analysis. Additionally, a case-control study for the rs3764650 genotypes was performed with 1308 samples (control subjects; n = 527, schizophrenia patients; n = 781). All participants were Japanese, unrelated to each other, and living in the same area.Results: The distributions of the rs3764650 genotypes in schizophrenia patients were not different from that of controls. However, the ABCA7 mRNA expression levels in schizophrenia patients were significantly higher than those in controls by a logistic regression analysis. Additionally, the ABCA7 mRNA expression levels in schizophrenia patients were correlated with the rs3764650 genotypes in a dose-dependent manner.Discussion: The ABCA7 mRNA expression levels in peripheral blood with the rs3764650 genotypes may be related to pathological mechanisms in schizophrenia and may be a biological marker for schizophrenia.

Keywords: schizophrenia, ATP-binding cassette sub-family A member 7 gene, single nucleotide polymorphism, rs3764650, mRNA expression

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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ABCA7 Gene Expression and Genetic Association Study in Schizophrenia | NDT - Dove Medical Press

Some of the first biological evidence of the incongruence transgender individuals experience, because their brain indicates they are one sex and their body another, may have been found in estrogen receptor pathways in the brain of 30 transgender individuals.

Twenty-one variants in 19 genes have been found in estrogen signaling pathways of the brain critical to establishing whether the brain is masculine or feminine, saysDr. J. Graham Theisen, obstetrician/gynecologist and National Institutes of Health Womens Reproductive Health Research Scholar at theMedical College of GeorgiaatAugusta University.

Basically and perhaps counterintuitively these genes are primarily involved in estrogens critical sprinkling of the brain right before or after birth, which is essential to masculinization of the brain.

Variants investigators identified may mean that in natal males (people whose birth sex is male) this critical estrogen exposure doesnt happen or the pathway is altered so the brain does not get masculinized. In natal females, it may mean that estrogen exposure happens when it normally wouldnt, leading to masculinization.

Both could result in an incongruence between a persons internal gender and their external sex. The negative emotional experience associated with this incongruence is called gender dysphoria.

They are experiencing dysphoria because the gender they feel on the inside does not match their external sex, Theisen says. Once someone has a male or female brain, they have it and you are not going to change it. The goal of treatments like hormone therapy and surgery is to help their body more closely match where their brain already is.

It doesnt matter which sex organs you have, its whether estrogen, or androgen, which is converted to estrogen in the brain, masculinizes the brain during this critical period, saysDr. Lawrence C. Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics in theDepartment of Obstetrics and Gynecology. We have found variants in genes that are important in some of these different areas of the brain.

These brain pathways are involved in regions of the brain where the number of neurons and how connected the neurons are typically differ between males and females.

They note that while this critical period for masculinizing the brain may seem late, brain development actually continues well after birth and these key pathways and receptors already need to be established when estrogen arrives.

While its too early to definitively say the gene variants in these pathways result in the brain-body incongruence called gender dysphoria, it is interesting that they are in pathways of hormone involvement in the brain and whether it gets exposed to estrogen or not, says Layman.

He and Theisen are co-corresponding authors of the study in the journalScientific Reports.

This is the first study to lay out this framework of sex-specific development as a means to better understand gender identity, Theisen says. We are saying that looking into these pathways is the approach we are going to be taking in the years ahead to explore the genetic contribution to gender dysphoria in humans.

In fact, they already are exploring the pathways further and in a larger number of transgender individuals.

For this study, they looked at the DNA of 13 transgender males, individuals born female and transitioning

to male, and 17 transgender females, born male and transitioning to female. The extensive whole exome analysis, which sequences all the protein-coding regions of a gene (protein expression determines gene and cell function) was performed at the Yale Center for Genome Analysis. The analysis was confirmed by Sanger sequencing, another method used for detecting gene variants.

The variants they found were not present in a group of 88 control exome studies in nontransgender individuals also done at Yale. They also were rare or absent in large control DNA databases.

Reproductive endocrinologist/geneticist Layman says his experience with taking care of transgender patients for about 20 years, made him think there was a biological basis. We certainly think that for the majority of people who are experiencing gender dysphoria there is a biologic component, says Theisen. We want to understand what the genetic component of gender identity is.

While genetics have been suggested as a factor in gender dysphoria, proposed candidate genes to date have not been verified, the investigators say. Most gene or gene variants previously explored have been associated with receptors for androgens, hormones more traditionally thought to play a role in male traits but, like estrogen in males, also are present in females.

MCG investigators and their colleagues decided instead to take what little is known about sex-specific brain development that estrogen bath needed in early life to ensure masculinization of the brain to hone in on potential sites for relevant genetic variances. Extensive DNA testing initially revealed more than 120,000 variants, 21 of which were associated with these estrogen-associated pathways in the brain.

Animal studies have helped identify four areas of the brain with pathways leading to development of a male or female brain, and the investigators focused on those likely also present in humans. Laboratory studies have indicated that disrupting these brain pathways in males and females during this critical period results in cross sex behavior, like female rodents mounting and thrusting and males taking on a more traditional female posture when mating. These cross sex behaviors, which also have been documented in non-human primates, emerge during the natural sex hormone surge of puberty.

While sex specific brain development has not been thoroughly evaluated in humans, as with animals, the effects typically play out most at the time of puberty, a time when sex hormones naturally surge, when the general awareness of our sexuality really begins to awaken and when the complex state of gender dysphoria may become easier for adolescents to articulate, the investigators say. Layman notes that many individuals will report experiencing gender incongruent feelings as early as age 5.

Theisen notes that we all are full of genetic variants, including ones that give us blue eyes versus brown or green, and the majority do not cause disease rather help make us individuals. I think gender is as unique and as varied as every other trait that we have, Theisen says.

The investigators suggest modification of the current system for classifying variants that would not imply that a variant means pathogenic, or disease causing.

Last year, the World Health Organization said that genderincongruenceis not a mental health disorder and six years before thatThe Diagnostic and Statistical Manual of Mental Disorders, replaced gender identity disorder with general dysphoria.

About 0.5 to 1.4% of individuals born male and 0.2 to 0.3 % of individuals born female meet criteria for gender dysphoria. Identical twins are more likely than fraternal twins to both report gender dysphoria.

Gender affirming therapies, like hormone therapies and surgeries along with mental health evaluation and support, help these individuals better align their bodies and brains, the physician-scientists say.

Transgender individuals experience increased rates of discrimination, sexual violence and are at increased risk of depression, substance abuse and attempted suicide. About 26% report use of alcohol or other drugs to help cope; 19% have been denied medical care by a physician or other provider, some report verbal harassment in a medical environment and insurance companies do not consistently cover the cost of gender affirming hormone or surgical therapies.

A problem, the investigators say, is an overall lack of understanding of the biologic basis of gender dysphoria.

While their study of 30 individuals they now have data on more than 30 others appears to be the largest to date, the sample size prompted them to classify the published findings as preliminary.

Reference: Theisen et al. (2019).The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants. Scientific Reports.DOI: https://doi.org/10.1038/s41598-019-53500-y.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Genetic Variants Linked to Disparity Between a Persons Internal Gender and Their External Sex - Technology Networks

New research from the UK has revealed that the build-up of proteins in neuronal cellsthe hallmark of Alzheimers diseasemight be affecting the activity of genes implicated in the disease. This novel discovery may help shed more light on how and why these proteins build up, and how they lead to neuronal death and destruction.

Currently, no treatments are available that can change the course of Alzheimers disease. [This new information can be used to help scientists in their] understanding the interaction between genes and progression of the disease, said Prof. Jonathan Mill, of the University of Exeter Medical School, who led the project.[It] will help us identify new targets for treatment, which we hope will one day lead to drugs that can effectively treat this terrible disease.

Alzheimers disease is a disease of the elderly, commonly associated with loss of memory as it progressives, and eventual loss of all cognitive function. How it develops is not a well understood process, but it is suspected that genetics play a role. The tale-tell histological confirmation of Alzheimers disease is the presence of amyloid plaques and neurofibrillary tangles (made up of the protein tau)each the product of normal proteins which become over-expressed in diseased neuronal brain tissue to the point the neurons are poisoned and die. These proteins are found in lower amounts in normal brains, and the number of plaques and tangles found in patients tends to correspond to the severity of the disease phenotype.

Researchers at the University of Exeter, working in collaboration with Eli Lilly, and funded by Alzheimers Research UK and Alzheimers Society, have examined the brains of mice with mutations in the genes that code for amyloid and tau proteins, hoping to build an animal model to understand the disease better. The build-up of both proteins in specific regions of the brain is known to play a role in Alzheimers disease, so by recreating the genetic conditions, they hope to be able to determine what else must occur for disease development.

The results of this study were published inCell Reports, and the researchers found evidence that the levels of gene activity changed dramatically as tau and amyloid accumulated in the brain. The team also observed significant changes in the levels of gene expression involved with regulating inflammation through the immune system, which became more active as tau levels increased. The research also found new pathways potentially involved in the progression of Alzheimers disease, which adds weight to theories of brain inflammation being a key component in the build-up of tau.

First author Dr. Isabel Castanho, of the University of Exeter, said: Our results suggest that the genes which are disrupted through the build-up of tau and amyloid in the entorhinal cortex region of the brain influence the function of the immune response in the brain, which is known to be a key component of Alzheimers disease.

The team monitored the build-up of both proteins in the brain and the expression levels of their corresponding genes as the mutant mice aged, so they could track the same corresponding time associated in humans with disease worsening. The sequence of events is believed to be similar in the model organism.

Castanho and her team observed the expected build-up of both tau and amyloid, and noted that these changes corresponded to widespread changes in gene expression particularly in the case of tau.

This new information suggests that the accumulation of tau might have a more dramatic effect on gene regulation in the brain than amyloid. Furthermore, several genes observed to be upregulated in this experiment are also known risk factors for Alzheimers disease, and the overall changes observed in the mutant mice mirrored those seen in human Alzheimers disease brains, suggesting this is a sound model.

Dr. Sara Imarisio, head of Research at Alzheimers Research UK, added: Genetics plays an important role in the development diseases like Alzheimers and teasing apart the processes contributing to disease is crucial in the hunt for new breakthroughs, which will change lives. Future research capitalizing on genetic findings like this is a top priority for dementia researchers around the world. Its only thanks to the generosity of our supporters that Alzheimers Research UK is able to fund vital dementia research like this.

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Amyloid, Tau Buildup in AD Spur Gene Expression that Causes Brain Inflammation - Clinical OMICs News

BETHESDA, Md., Feb. 12, 2020 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) heads to a new destination in sunny San Antonio, Texas in 2020. Named one of the fastest growing meetings in the USA by Trade Show Executive Magazine, the ACMG Annual Clinical Genetics Meeting continues to provide groundbreaking research and news about the latest advances in genetics, genomics and personalized medicine. To be held March 17-21, the 2020 ACMG Annual Meeting will feature more than 40 scientific sessions as well as three Short Courses, a variety of workshops, TED-Style talks and satellite symposia, and more than 750 poster presentations on emerging areas of genetic and genomic medicine.

Interview those at the forefront in medical genetics and genomics, connect in person with new sources and get story ideas on the clinical practice of genetics and genomics in healthcare today and for the future. Learn how genetics and genomics research is being integrated and applied into medical practice.

Topics include gene editing, cancer genetics, molecular genomics, exome sequencing, pre- and perinatal genetics, biochemical/metabolic genetics, genetic counseling, health services and implementation, legal and ethical issues, therapeutics and more.

Credentialed media representatives on assignment are invited to attend and cover the ACMG Annual Meeting on a complimentary basis. Contact Reymar Santos at rsantos@acmg.net for the Press Registration Invitation Code, which will be needed to register at http://www.acmgmeeting.net.

Abstracts of presentations are available online at http://www.acmgmeeting.net. A few 2020 ACMG Annual Meeting highlights include:

Program Highlights:

Cutting-Edge Scientific Concurrent Sessions:

Three Half-Day Genetics Short Courses on Monday, March 16 and Tuesday, March 17:

Photo/TV Opportunity: The ACMG Foundation for Genetic and Genomic Medicine will present bicycles to local children with rare genetic diseases at the Annual ACMG Foundation Day of Caring on Friday, March 20 from 10:30 AM 11:00 AM at the Henry B. Gonzlez Convention Center.

Social Media for the 2020 ACMG Annual Meeting: As the ACMG Annual Meeting approaches, journalists can stay up to date on new sessions and information by following the ACMG social media pages on Facebook, Twitterand Instagramand by usingthe hashtag #ACMGMtg20 for meeting-related tweets and posts.

Note be sure to book your hotel reservations early.

The ACMG Annual Meeting website has extensive information at http://www.acmgmeeting.net.

About the American College of Medical Genetics and Genomics (ACMG) and the ACMG Foundation for Genetic and Genomic Medicine

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Raye Alford, PhD ralford@acmg.net

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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Press Registration Reminder! Countdown to the 2020 ACMG Annual Clinical Genetics Meeting - PRNewswire

NEWPORT NEWS, Va. (WAVY) A bill that aims to add a disease to newborn testing in Virginia passed in the House on Monday in a 85-12 vote. The bill now heads to the Senate.

The parents of a young Newport News boy living with the disease say this is a step in the right direction in their fight for Nikolas law.

Nikola Grujicic was born March 15, 2018. He was 6 pounds, 6 ounces and 19 1/2 inches long. He was born a healthy and happy little boy, and he had his parents wrapped around his fingers.

His parents, Dragan and Lana Grujicic, say Nikola was perfect.

From day one, he barely ever cried, he was just so content. He just wanted to be loved and cuddled.

However, before his six month appointment, their smileylittle boy starting changing. In fact, the last time Lana and Dragan Grujicic saw their son smile was when he was 16 months old at Disney World.

Nikola is now almost 2 years-old.

I turned around, and I was like oh my god, hes really grinning, Lana Grujicic said.

Shortly before his six-month check-up, Nikola became frequently cranky and would scream.Lana Grujicic also noticed Nikola was clenching his fists often. At the appointment, she told the pediatrician about her concerns and when a few reflex tests didnt come back as they should have, a neurologist was recommended.

The pediatric neurologist ran a battery of tests on Nikola and after an agonizing three-week wait, the Grujicics were called in to get the results.

The news was devastating: Nikola was diagnosed with a rare, inherited condition called Krabbe Disease.

I wouldnt wish this on my worst enemy. I dont want a simple family to go through what weve been through, what we are going through, said Dragan Grujicic.

The myelin or white matter in the brain is affected by Krabbe Disease and patients lose their ability to move, speak, see, hear, eat and drink. Life expectancy for infantile Krabbe Disease is less than two years.

Its the reason why the family created Nikolas law, or House Bill 97.The family wants to add Krabbe disease and otherLeukodystrophies that affect the brain and spinal cord to the newborn screening in Virginia.

If I could go back and save him, I would, but I cant. This way I can. His legacy can be he can save other lives, said Dragan Grujicic.

With the help of advocates like Hunters Hope in New York and Del. Jason Miyares, the bill was written.

I made a promise to the family that I would introduce this legislation and advance this, Miyares said.My hope is that we can get this on the books so other parents dont go through the agony weve seen in this situation.

Last month, the Health, Welfare and Institutions committee voted to move Nikolas Law (HB 97) to the appropriations committee. It went under re-review and, in a big push forward, it was approved 85-12 in the House.

The bill now moves to the Senate.

For Nikola, his mother can only manage the disease. He was diagnosed too late for treatment that would help alleviate his symptoms and slow their progression. Treatment involves the use of umbilical cord blood shortly after birth. Cells that carry proteins the Krabbe patient is missing are transplantedlike a blood transfusion.

The procedure, however, can only be done shortly after birth because the disease progresses so quickly. As a result, a newborn screening test is the best method to know whether or not an infant has Krabbe.

I remember asking doctors, Why didnt you test me for this? You tested me for everything while I was pregnant,' Lana Grujicic said.

The test, she says, would have cost $6. It would happen during the routine blood test at three months into a pregnancy.

I cant understand why its so difficult to run another blood test and why you wouldnt want to, Lana Grujicic said.We are not going to stop. Its only a matter of when. We are not going to be willing to see other babies go through this and have Nikola go through this for nothing.

One in 125 people carry Krabbe disease.

Its only an issue if two carriers have a baby. If they do have a child, theres a 25 percent chance the baby will be affected.

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Bill moves forward to add rare genetic disease to newborn health screening in Va. - WAVY.com

SALT LAKE CITY, Feb. 12, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN), a leader in molecular diagnostics and personalized medicine, announced that R. Bryan Riggsbee, president and CEO, is scheduled to present at the SVB Leerink Global Healthcare Conference at 10:30 a.m. EST on February 25, 2020 in New York City.

The presentation will be available to interested parties through a live audio webcast accessible through a link in the investor information section of Myriads website at http://www.myriad.com.

About Myriad GeneticsMyriad Genetics, Inc., is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, EndoPredict, Vectra, GeneSight, riskScore Prolaris, ForeSight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

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Myriad Genetics to Present at the SVB Leerink Global Healthcare Conference - Yahoo Finance

A power drill helps a researcher extract a core from a tree included in the GenTree project.

By Elizabeth PennisiJan. 27, 2020 , 3:15 PM

Faced with deforestation, climate change, invasive pests, and new diseases, many trees are in trouble. Foresters and conservationists are scrambling to save them, but cant protect every stand of woods. And prioritizing which placesand even which individual treeswarrant preservation has been a challenge. For example, You want a lot of genetic diversity in a conservation area. The higher the diversity, the more the chances that the population will survive, says F. A. (Phil) Aravanopoulos, a forest geneticist at Aristotle University of Thessaloniki. But robust data on the genetic diversity of trees can be scarce.

Now, a 4-year, $7.7 million effort to document the genetic diversity of forests in Europe is helping fill that gap. In a project dubbed GenTree, researchers from 14 countries measured, cored, and took DNA samples from 12 important tree species across Europe. No other continents forests have been documented so broadly and so comprehensively, says Nathalie Isabel, a forest geneticist and forester with Natural Resources Canada. The sampling is amazing.

The results, reported at a forest genetics conference this week in Avignon, France, could help conservationists, tree breeders, forest managers, and researchers trying to understand how forests will cope with climate change. The data trove will provide a solid base for a better understanding of the links between genetic diversity and increased adaptation and resilience of the European forests, says forest researcher Hernn Serrano-Len, who worked at the recently disbanded European Forest Institute Planted Forests Facility.

More than 42% of the European Unions land area is covered by forests and other wooded land. These areas provide wood, food, energy, and ecosystem services such as clean water and flood control, and are enjoyed by hunters, hikers, and birdwatchers. In a bid to improve forest management, in 2016 the European Unions Horizons 2020 program funded GenTree to document tree species of both economic and ecological importance. It is the first project to consider genetic diversity not only from the breeding side, but also from the conservation side, says project leader Bruno Fady, a forest geneticist at the French National Institute for Agricultural Research.

To assemble the data set, research teams looked at about 20 trees from each of the dozen tree species, which included maritime pine, Norway spruce, sessile oak, stone pine, and European beech. They took samples from 10 to 25 populations of each species, working to include individuals from across the trees range, and that survived in places with extreme environmental conditions, such as drought or late frosts. The researchers then sequenced active genes, as well as other DNA from across the genomes, to determine the range of genetic variation both within and between tree populations. The researchers also measured key traits such as annual growth, leaf surface area, seed germination rate, and resistance to disease, and analyzed the degree to which these traits were linked to specific gene variants.

A core that GenTree researchers extracted from a black poplar inthe Drmeregion ofFrancein 2017

Such data helped reveal how trees coped with their local environments; for example, identifying populations and individuals that were better adapted to drought or frost than others. A key revelation was just how much genetic variation exists in some populations. Theres a huge within-species diversity, which is rarely acknowledged in forestry and rarely used in management, Fady says. A single population of beech, for example, might contain high- and low-elevation trees that are as different genetically as trees living in forests that are hundreds of kilometers apart.

Such genetic insights can be very helpful in planning conservation programs, Isabel says. I wish we could have a North American project like that, she says.

The data might also come in handy for researchers thinking about how to help forests survive climate change. One possible strategy is to transplant trees from warmer climates into cooler areas undergoing warming, a process called assisted migration. In some cases, the genetic data could be key in deciding which seeds to plant in new areas, or how to breed hardier trees. But in others, the genetic data might indicate dont bother with assisted migration, Fady explains. You have enough seeds [with enough variation], and natural selection will play the role of the breeder, so the trees will be able to adapt to warming on their own.

The work also drives home the need for tree breeders to focus more on genetics, says David Neale, a forest geneticist at the University of California, Davis. They need to understand the genetic composition of the individual [tree], he says. Its not enough to say [the tree] came from this place in the world. Thats the level the foresters are working with right now.

Other results at the meeting suggest better genetic data can benefit commercial foresters. In onemodeling study, researchers found that pine forests grown from relatively expensive improved seed developed by breeders are likely to be worth the added cost, because the bred trees mature quickly and produce more wood. Its a negligible extra seedling cost, says Serrano-Leon, who predicts that tree breeding programs all over Europe will benefit from the [GenTree] data. It is an extraordinary resource.

*Correction, 28 January, 1:25 p.m.: An earlier version of this story misspelledNathalie Isabel's name.

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Massive effort to document the genetics of European forests bears fruit - Science Magazine

Every Nazi had Jewish ancestors. Discovering this fact alone is worth the price of Adam Rutherfords engaging and enlightening new book. A geneticist by training, Rutherford is an accomplished writer who knows how to weave a fascinating tale from scientific data as he explains that our shared ancestry is far more recent than the small group of a pan-Africa species that left the continent 70,000 years ago.

It is a popular myth that there are more people alive today than have ever died. The current global population is about 7.8 billion and increasing at the rate of 220,000 each day. It has been estimated that there have been some 108 billion members of our species, Homo sapiens. The dead may outnumber the living by almost 100 billion, but as Rutherford points out, there are more people alive as you read this than on any other day in history.

Race does existprecisely because it isasocial construct, andracism isrealbecause peopleenact it

Assuming that generations are separated by 25 years, then in every generation back through time, the number of ancestors you have doubles: two parents, four grandparents, eight great-grandparents and so on. Going back just 1,000 years generates more than a trillion ancestors 1,099,511,627,776. This staggering number is nearly 10 times greater than all of the people who have ever lived. The solution to this apparent paradox is simple: family trees coalesce and collapse in on themselves as we go back in time, with many individuals occupying multiple positions.

The last common ancestor of all people with longstanding European ancestries lived only 600 years ago, in 1400. This long lost ancestor appears on every familys tree. If you hoped for a royal connection then you wont be disappointed: as Rutherford explains, anyone alive today with a British ancestral lineage is almost certainly descended from Edward III, and all of his regal ancestors, including William the Conqueror. It may sound far-fetched, but so did six degrees of separation the idea that everyone on the planet is six, or fewer, social connections away from each other.

Remarkably, we only need to travel back 1,000 years to reach a special moment in time dubbed the genetic isopoint. Every person alive at this point in 10th-century Europe who left descendants is an ancestor of all Europeans alive today. This mind-numbing concept is a mathematical and genetic certainty that is far removed from the ancestry, family trees and identity that we learn from such TV programmes as Who Do You Think You Are?. Logically, there must also be a global isopoint, a time when the entire population of the Earth were the ancestors of everyone alive today. There is, and it was just 3,400 years ago.

How ancestry and family trees actually work shows the concept of racial purity to be pure fantasy. For humans, Rutherford explains, there are no purebloods, only mongrels enriched by the blood of multitudes. So, like the rest of us, every white supremacist and racist has African, Indian, Chinese, Native American, Middle Eastern and Indigenous Australian ancestors to name but a few.

Human genetics is the study of the similarities and differences between people and populations. Although the idea that genetic variations between traditional racial groupings have any meaningful influence on behaviour or innate abilities has been widely discredited, papers are still being published in peer-reviewed journals in which the genetics for complex human traits is sliced and diced along racial lines.

Attempts to justify racism have long been rooted in science, more accurately pseudoscience. Rutherford understands that racism is a social phenomenon, but rightly believes that when science is warped, misrepresented or abused to justify hatred and prejudice it must be challenged. He focuses on what genetics says about skin colour, ancestry, intelligence, sporting prowess, and about so-called racial purity and superiority. And he attempts to equip the reader with the scientific tools necessary to tackle questions concerning race, genes and ancestry, as he explains what DNA does and does not reveal about the concept of race.

No one has ever agreed how many races there are, nor what their essential features might be. The emergence of the pseudoscientific approach to human taxonomy that relies on physical traits such as skin colour or physiognomy coincided with the empire building of European powers. Unsurprisingly, the invention of race occurred in an era of exploration, exploitation and plunder.

Skin colour may be the most obvious difference between people but it has little to do with the total amount of similarity or difference between individuals and between populations. If we accept that people are born with different innate capabilities and potential, then how these abilities cluster within and between populations has more to do with history and culture than DNA and biology. Studies reveal that genetic differences between populations do not account for differences in academic, intellectual, musical or sporting performance between those populations.

So-called racial differences are literally just skin deep: genetics and human evolutionary history do not support the traditional or colloquial concepts of race. As a result, Rutherford argues, we are prone to say race doesnt exist, or race is just a social construct. However, race does exist precisely because it is a social construct, and racism is real because people enact it. One has to admire his desire to challenge Jonathan Swifts dictum: Reasoning will never make a Man correct an ill Opinion, which by Reasoning he never acquired.

How to Argue with a Racist: History, Science, Race and Reality by Adam Rutherford is published by Weidenfeld & Nicolson (RRP 12.99). To order a copy go to guardianbookshop.com. Free UK p&p over 15.

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How to Argue with a Racist by Adam Rutherford review were all related - The Guardian

Lions, rhinos and cheetahs are among the wild species at risk of irreversible genetic pollution from breeding experiments, scientists have warned.

South African game farmers have increasingly been breeding novel trophy animals, including some freakishly-coloured varieties such as the black impala, golden wildebeest or pure-white springboks.

Some hunters pay more to bag unusual trophies, but now the South African government is under fire for permitting further gene manipulation ventures that scientists say could have a damaging effect on the continents wildlife.

Writing in the latest issue of the South African Journal of Science, a group of 10 senior wildlife scientists and researchers have criticised the government for quietly amending the countrys Animal Improvement Act last year to allow for the domestication and genetic improvement of at least 24 indigenous wildlife species including rare and endangered animals such as rhino, cheetah, lion, buffalo and several antelope species.

The researchers warn that: A logical endpoint of this legislation is that we will have two populations of each species: one wild and one domesticated domesticated varieties of wildlife will represent a novel, genetic pollution threat to South Africas indigenous wildlife that will be virtually impossible to prevent or reverse.

Lead author Prof Michael Somers, a senior researcher at the Mammal Research Institute at the University of Pretoria, says the government should scrap the controversial law amendment which lumps together rare and endangered species such as rhinos with rabbits and domesticated dog breeds.

Somers and his colleagues say the act typically provides for domesticated species to be bred and genetically improved to obtain superior domesticated animals with enhanced production and performance.

These animals can also be used for genetic manipulation, embryo harvesting, in-vitro fertilisation and embryo transfers, say the scientists.

They argue that the law will not improve the genetics of the affected wildlife species but rather will pose ecological and economic risks as it will be expensive and almost impossible to maintain a clear distinction between wild and domesticated species.

Somers and his colleagues say the government did not appear to have consulted either scientists, government wildlife agencies or the general public about the controversial move.

Last year, in response to concerns that the legal amendment would remove the listed species from the ambit of conservation legislation, the governments environment department issued a statement to emphasise that that game breeders would still have to comply with the National Environmental Management Biodiversity Act and regulations concerning threatened or protected species.

But Somers and his co-authors remain concerned, saying that in the province of KwaZulu-Natal, where there is close cooperation between game breeders and the provincial conservation organisation, the authorities still had difficulty keeping track of what happens on game farms and in enforcing legislation.

This new law will add to this difficulty, and will likely be less controlled in some other provinces, they said, adding that the genetic consequences of intensive or semi-intensive breeding of wildlife species were negative and considerable.

Intensive breeding through artificial (non random) selection of individuals for commercially valuable traits (eg horn size/shape, coat colour) represents humans taking over this natural process. Such artificial selection by humans is even more powerful than natural selection in creating distinct phenotypes within very short time frames.

Michael Bruford, a professor of biodiversity at the University of Cardiff and co-chair of the Conservation Genetics Specialist Group of the IUCN Species Survival Commission, added his support to the concerns raised. The Convention on Biological Diversitys 2020 targets clearly state that signatory countries should minimise genetic erosion (loss of genetic diversity) in domestic, socio-economically and culturally valuable species, he said.

However you regard these species and they cannot reasonably be classified as domestic animals South Africas proposal will very likely lead to genetic erosion, in contravention of the CBD target, he added. This proposal also comes at a time of rapid environmental deterioration, when we need to be increasing the resilience of our species by ensuring they retain as much genetic diversity as possible.

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South Africa: wild animals at risk of 'genetic pollution' - The Guardian

Africans today possess more Neandertal ancestry than previously thought, a new analysis shows, though still not as much as most people outside of Africa.

People who migrated out of Africa around 60,000 to 80,000years ago interbred with Neandertals. That set the stage for some human groupsto return toAfrica carrying Neandertal genes that spread throughout the continent, apparentlybecause those genes proved beneficial to ancient Africans, researchers reportJanuary 30 in Cell.

Sets of Neandertal gene variants inherited by modern Africans include genes involved in bolstering the immune system and modifying sensitivity to ultraviolet radiation, geneticist Joshua Akey of Princeton University and his colleagues found. Those genes presumably spread quickly once introduced to African humans. A new statistical approach for detecting ancient genetic material thats still present in modern DNA, developed by Akeys team, enabled this discovery of genetic inheritance that has gone unnoticed until now.

The researchers new technique also detected a human journeyout of Africa roughly 100,000 to 150,000 years ago that led to the introductionof human genes into Neandertals via interbreeding. Some African DNA that appearedat first to have been inherited from Neandertals actually came from thoseancient humans when scrutinized more closely, the investigators say.

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Our work highlights how humans and Neandertals interactedfor hundreds of thousands of years, with populations dispersing out of and backinto Africa, Akey says. Remnants of Neandertal DNA survive in every modernhuman population studied to date.

Akeys team analyzed DNA from 2,504 present-day Africans,Europeans and East Asians. Each persons DNA was compared with DNA extracted byother researchers from Neandertal fossils found in Siberia and in southeasternEurope.

The new statistical program calculates the probability thatspecific segments of a persons DNA represent an inheritance of Neandertal DNAsegments. In contrast, previous approaches compared living peoples DNA to thatof Neandertals as well as to a modern African group assumed to lack Neandertalancestry, often Nigerias Yoruba people. But if those reference groups actuallypossess Neandertal DNA, as indicated by the new report, then earlier studiesunderestimated Neandertals genetic legacy.

Neandertals were humans closest evolutionary relatives,inhabiting parts of Europe and Asia from possibly morethan 800,000 years ago until around 40,000 years ago (SN: 5/15/19). Neandertal DNA accounts for, on average, about 0.5percent of individual Africans genetic inheritance, or genome, far more thanreported in earlier studies, Akeys team concludes. Most present-day peopleoutside Africa carry about three times as much Neandertal DNA as Africans do, theresearchers say. More than 94 percent of Neandertal DNA sequences detected intodays Africans have also been observed in non-Africans, they say.

Surprisingly, the new study also identifies comparable proportionsof Neandertal DNA in the genomes of modern Europeans and East Asians, about 1.7percent and 1.8 percent, respectively. Earlier studies had estimated that EastAsians possessed about 20 percent more Neandertal ancestry than Europeans.

Although the efficacy of Akeys statistical method awaitsindependent confirmation, it seems real to me, says paleogeneticist CarlesLalueza-Fox of the Institute of Evolutionary Biology in Barcelona. Along with a2012 study of Neandertal ancestry in modern North Africans, the new report bestfits a scenario in which human evolution after around 300,000 years agofeatured failed, partly successful and successful population movements out ofAfrica, hybridizationbetween genetically different Homopopulations and back-to-Africa migrations (SN: 10/5/16).

Akeys statistical approach provides an unprecedentedopportunity to detect Neandertal ancestry in people around the world, sayspaleogeneticist Cosimo Posth of the Max Planck Institute for the Science ofHuman History in Jena, Germany.

Other DNA evidence suggests that Homo sapiens and Neandertals interbredin Europe and Asia at least 50,000 years ago (SN: 9/21/16). But Neandertals didnt mate with ancient people inAfrica, Akeys group finds. Instead, the teams computer simulations indicatethat low levels of human migration from Europe to Africa over roughly the past 20,000years injected Neandertal DNA into African populations.

That conclusion stems from a geographic imbalance in sharedNeandertal DNA among people today. Africans exclusively share 7.2 percent oftheir Neandertal ancestry with Europeans, versus 2 percent with East Asians,the researchers find. That makes Europe a more likely launching ground forback-to-Africa migrations by humans carrying Neandertal genes.

The new findings call for the reevaluation of fossils andarchaeological discoveries both in and out of Africa, as well as more intense searchesfor ancient genes in modern Africans, says geneticist Sarah Tishkoff of theUniversity of Pennsylvania.

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A new genetic analysis reveals that modern Africans have some Neandertal DNA too - Science News