Category Archives: Human Genetics

Newswise Researchers are working to determine why the aortic valve doesnt form correctly in patients with the most common congenital heart defect: bicuspid aortic valve.

In a new Nature Communications study, the Michigan Medicine-led group found two genetic variants associated with the condition.

Bicuspid aortic valve is moderately heritable, yet experts are still figuring out which part of our DNA code explains why some BAV patients inherit the disease.

Weve completed the first successful genomewide study of bicuspid aortic valve, by studying subjects at U-Ms Frankel Cardiovascular Center, says first author Bo Yang, M.D., Ph.D., a Michigan Medicine cardiac surgeon. We are using state-of-the-art technology of induced stem cell and gene editing to dissect the genomic region we found to be associated with BAV. Its a great collaboration that will accelerate our scientific understanding of this disease.

BAV patients have aortic valves with only two leaflets, rather than three, limiting the valves function as the heart pumps oxygen-rich blood toward the aorta to enrich the body. The condition is associated with various complications, including a narrowed valve (aortic stenosis), a leaky valve (aortic insufficiency or regurgitation), an infection of the valve or an aortic aneurysm.

A great head start

The researchers performed genomewide association scans of 466 BAV cases from the Frankel Cardiovascular Center and 4,660 controls from the Michigan Genomics Initiative, with replication on 1,326 cases and 8,103 controls from collaborators at other leading institutions. They also reprogrammed the matured white blood cells to change them back into immortal cells (stem cells) and changed the genetic code of those cells to study the function of the variants they identified through the genomewide association study.

The team reports two genetic variants, both affecting a key cardiac transcription factor called GATA4, reached or nearly reached genomewide significance in BAV. GATA4 is a protein important to cardiovascular development in the womb, and GATA4 mutations have been associated with other cardiovascular defects.

One of the regions we identify actually changes the protein coded by the gene, and the other likely changes expression levels of GATA4 during valve formation, says senior author Cristen Willer, Ph.D., professor of internal medicine, human genetics and computational medicine and bioinformatics. Because most genetic variants associated with human disease are in the 99 percent of the genome that doesnt code for proteins, this finding gives us a great head start toward understanding the mechanism of how a genetic change outside the protein-coding part of the genome can lead to disease.

Specifically, the authors point to a disruption during the endothelial-mesenchymal transition, which is a critical step in the development of the aortic valve. Willer and Yang say this study, with support from the Frankel CVC and the Bob and Ann Aikens Aortic Program, adds new knowledge about the mechanism of BAV formation. They plan to continue to study the biological effect of both variants associated BAV in cells and animal models.

Collaborators from a variety of institutions provided replication of the result, including Harvard Medical School, the University of Texas, the Montreal Heart Institute, the Karolinska Institute and Icahn School of Medicine at Mount Sinai.

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Study Implicates Two Genetic Variants in Bicuspid Aortic Valve Development - Newswise (press release)

Newswise PHILADELPHIAA new strategy an injectable antibody for lowering blood lipids and thereby potentially preventing coronary artery disease and other conditions caused by the build-up of fats, cholesterol, and other substances on the artery walls, is supported by findings from two new studies from researchers in the Perelman School of Medicine at the University of Pennsylvania.

The new approach targets a protein called ANGPTL3, a regulator of enzymes that clear triglycerides and other fat molecules from the blood. Research in recent years has hinted that inherited mutations in the ANGPTL3 gene that disable its function can decrease triglyceride, LDL cholesterol and HDL cholesterol levels.

As reported in a paper published online today in the New England Journal of Medicine, researchers from Penn Medicine, Regeneron Pharmaceuticals, and a group of international collaborators studied ANGPTL3 in both humans and mice. They found that blocking ANGPTL3 activity with an investigative injectable antibody, known as evinacumab, reduced triglycerides by up to 76 percent and lowered LDL cholesterol 23 percent in human study participants, and largely reversed signs of atherosclerosis in a mouse models.

Researchers also included a human genetics study of approximately 188,000 people, which found that carriers of mutations that disable ANGPTL3 had nearly 40 percent fewer incidents of coronary artery disease as compared to those with fully functioning ANGPTL3.

In the clinic, I treat many patients with very high triglycerides, but our current medications arent lowering triglycerides enough in many cases. Im delighted at the prospect of a new treatment thats a lot more potent, all the more because it lowers LDL at the same time, said study co-author Richard L. Dunbar, MD, assistant professor of Cardiovascular Medicine and member of Penns Division of Translational Medicine and Human Genetics. Its very reassuring to see that people with this genetic defect actually seem to be protected from heart disease. I think that really bodes well for a therapeutic thats targeting the ANGPTL3 pathway.

In a separate study, published in the March issue of the Journal of the American College of Cardiology (JACC) researchers from Penn Medicine, Harvard Medical School, Washington University in St. Louis, and nine other institutions, who also studied humans and mice, reported on a similar set of findings. Among these was the discovery from another large population sample that carriers of ANGPTL3-inactivating mutations had a 34 percent lower rate of coronary artery disease compared to non-carriers.

We used different lines of evidence to show that ANGPTL3 deficiency is associated with a reduced risk of coronary artery disease, said study co-author Kiran Musunuru, MD, PhD, MPH, an associate professor of Cardiovascular Medicine at Penn. But ultimately we were able to identify that fact that carriers of this genetic mutation did in fact experience a benefit with little other health risk.

A beneficial gene defect

The trial of research on ANGPTL3 as a potential target for atherosclerosis prevention began over a decade ago when scientists reported on two cases of familial hypolipidemia, a rare inherited condition involving abnormally low blood levels of cholesterol and triglycerides. Most cases of familial hypolipidemia are linked to other gene mutations that cause liver and digestive problems, but in members of this American family with the condition, Musunuru found mutations in the gene for ANGPTL3, and no associated health problems.

In the NEJM study from Dunbar and colleagues, the antibody had similar effects in an initial clinical trial in 83 people, lowering the blood levels of triglycerides measured after fasting by about 75 percent at the highest dose, and lowering LDL cholesterol by about 30 percent.

Statins and other drugs are already widely used to lower LDL cholesterol, but there are fewer options for lowering triglycerides. For treating high triglyceride levels theres really nothing out there thats quite this potent, so thats where I expect this new approach to have its greatest therapeutic benefit, Dunbar said.

Hypertriglyceridemia, a condition in which fasting triglyceride levels are greater than 150 mg/dL, is estimated to affect at least tens of millions of American adults. It is associated with coronary artery disease and other forms of atherosclerosis, and can lead to potentially fatal inflammation of the pancreas.

In principle, the strategy of targeting ANGPTL3 could have an even broader use in treating atherosclerosis in the general population. The researchers found that in a mouse model of atherosclerosis, treatment with evinacumab reduced the area of atherosclerotic lesions by 39 percent.

The population study findings, including those from the JACC study, suggest that even the partial inactivation of ANGPTL3carriers typically have one mutant copy of the gene and one working copymay be powerfully protective against coronary artery disease, which has long been one of the leading causes of death in developed countries. In the JACC study, for example, carriers of inactivating ANGPTL3 mutations had only a 17 percent reduction in triglycerides on average. But that modest reduction was associated with a 34 percent reduction in coronary artery disease risk. Moreover, Musunuru and his colleagues found that the people in their sample with the lowest blood levels of ANGPTL3 had a 35 percent lower rate of heart attacks compared to those with the highest ANGPTL3 levels.

Dunbar noted that the population study findings probably have lain to rest a lingering concern about targeting ANGPTL3, namely its effect in lowering not just LDL and triglycerides but also the so-called good cholesterol, known as HDL cholesterol. If lowering HDL were a major concern, then I dont think we would have seen the evidence of overall benefit that we did in this study, he said.

The two studies together suggest that single copies of inactivating ANGPTL3 mutations are found in roughly one of every 250 people of European descent, whereas people with mutations in both copies of the geneas in the family studied by Musunuru and colleaguesare much rarer.

According to Dunbar, the next logical step would be to take evinacumab into larger clinical trials to study its safety, effectiveness, and optimal dosing. The effect of even a single dose lasts for several months, and its plausible that with multiple doses we would see an even deeper and more sustained effect, he said.

Additional Penn authors on the NEJM study include Scott Damrauer, MD, Aeron Small, and Daniel J. Rader MD, and the Journal of the American College of Cardiology study include Xiao Wang, PhD, Daniel J. Rader, MD, and Danish Saleheen, MBBS, PhD.

Funding sources for the studies detailed in this press release included grants from the National Heart, Lung, and Blood Institute (NHLBI) (R01HL131961), (K08HL114642), (R01HL118744), (R01HL127564) and (R21HL120781) and Regeneron Pharmaceuticals.

Editors Note: Dunbar has received grant support from and consulted for Regeneron Pharmaceuticals, Inc.

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Penn Medicineis one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and theUniversity of Pennsylvania Health System, which together form a $6.7 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $392 million awarded in the 2016 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals byU.S. News & World Report-- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2016, Penn Medicine provided $393 million to benefit our community.

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Genetic Mutation Studies Help Validate New Strategy for Reducing Lipids, Cholesterol - Newswise (press release)

What drives human behavior? Why do we do what we do? Is free will an illusion? Has civilization made us better? Can we escape our tribal past?

These questions (and many, many others) are the subject of a new book called Behave: The Biology of Humans at Our Best and Worst. The author is Robert Sapolsky, a biology professor at Stanford and a research associate with the Institute of Primate Research at the National Museums of Kenya.

In a brisk 800 pages, Sapolsky covers nearly every facet of the human condition, engaging moral philosophy, evolutionary biology, social science, and genetics along the way.

The key question of the book why are we the way we are? is explored from a multitude of angles, and the narrative structure helps guide the reader. For instance, Sapolsky begins by examining a persons behavior in the moment (why we recoil or rejoice or respond aggressively to immediate stimuli) and then zooms backward in time, following the chain of antecedent causes back to our evolutionary roots.

For every action, Sapolsky shows, there are several layers of causal significance: Theres a neurobiological cause and a hormonal cause and a chemical cause and a genetic cause, and, of course, there are always environmental and historical factors. He synthesizes the research across these disciplines into a coherent, readable whole.

In this interview, I talk with Sapolsky about the paradoxes of human nature, why were capable of both good and evil, whether free will exists, and why symbols have become so central to human life.

This conversation has been edited for length and clarity.

You start the book with a paradox of sorts: Humans are both exceptionally violent and exceptionally kind. Were capable on the one hand of mass genocide, and on the other hand of heroic self-sacrifice. How do we make sense of this dichotomy?

In an evolutionary sense, we're this incredibly confused species, in between all sorts of extremes of behavior and patterns of selection compared to other primates who are far more consistently X or Y, and we're so often floating in between. In a more proximal sense, I think what that tells you over and over again is just how important context is.

Can you clarify what you mean by context here?

Sure. What counts as our worst and best behaviors are so much in the eye of the beholder. So often it really is the one man's freedom fighter versus the other's terrorist. But even separate of that, just the fact that in some settings our biology is such that we are extraordinarily prosocial creatures, and in other settings extraordinarily antisocial creatures, shows how important it is to really understand the biology of our response to context and environment.

You argue that biological factors don't so much cause behavior as modulate it can you explain what you mean?

Ultimately, there is no debate. Insofar as using "genes" as a surrogate for "nature," it only makes sense to ask what a gene does in a particular environment, and to ask what the behavioral effects of an environment are given someone's genetic makeup. They're inseparable in a way that is most meaningful when it comes to humans.

Given how variable human behavior is, do you believe in a fixed human nature? There is a lot of debate about this in the world of philosophy. I wonder how you think about it as a scientist.

Human nature is extraordinarily malleable, and I think that's the most defining thing about our nature.

Okay, but in the book you come awfully close to concluding something very different. Specifically, in your discussion of free will, you reluctantly embrace a deterministic account of human behavior. You argue that free will is, in fact, an illusion, and if thats true, Im not sure how malleable we can be.

If it seemed tentative, it was just because I was trying to be polite to the reader or to a certain subset of readers. If there is free will, its free will about all sorts of uninteresting stuff, and it's getting cramped into tighter and increasingly boring places. It seems impossible to view the full range of influences on our behavior and conclude that there is anything like free will.

Thats a bold claim...

Youre right. On the one hand, it seems obvious to me and to most scientists thinking about behavior that there is no free will. And yet its staggeringly difficult to try to begin to even imagine what a world is supposed to look like in which everybody recognizes this and accepts this.

The most obvious place to start is to approach this differently in terms of how we judge behavior. Even an extremely trivial decision like the shirt you choose to wear today, if dissected close enough, doesnt really involve agency in the way we assume. There are millions of antecedent causes that led you to choose that shirt, and you had no control over them. So if I was to compliment you and say, Hey, nice shirt, that doesnt really make any sense in that you arent really responsible for wearing it, at least not in the way that question implies.

Now, this is a very trivial thing and doesnt appear to matter much, but this logic is also true for serious and consequential behaviors, and thats where things get complicated.

If we're just marionettes on a string and we don't have the kind of agency that we think we have, then what sense does it make to reward or punish behavior? Doesnt that imply some degree of freedom of action?

Organisms on the average tend to increase the frequency of behaviors for which theyve been rewarded and to do the opposite for punishment or absence of reward. That's fine and instrumentally is going to be helpful in all sorts of circumstances. The notion of there being something virtuous about punishing a bad behavior, that's the idea thats got to go out the window.

I always come back to the example of epilepsy. Five hundred years ago, an epileptic seizure was a sign that you were hanging out with Satan, and the appropriate treatment for that was obvious: burning someone at the stake. This went on for hundreds of years. Now, of course, we know that such a person has got screwy potassium channels in their neurons. It's not them; it's a disease. It's not a moral failing; it's a biological phenomenon.

Now we dont punish epileptics for their epilepsy, but if they suffer bouts frequently, we might not let them drive a car because its not safe. Its not that they dont deserve to drive a car; its that its not safe. Its a biological thing that has to be constrained because it represents a danger.

Its taken us 500 years or so to get to this revelation, so I dont know how long it will take us to reach this mindset for all other sorts of behaviors, but we absolutely must get there.

So what is true for the epileptic is true for all of us all of the time? We are our brains and we had no role in the shaping of our biology or our neurology or our chemistry, and yet these are the forces that determine our behavior.

Thats true, but its still difficult to fully grasp this. Look, I believe there is no free will whatsoever, but I can't function that way. I get pissed off at our dog if he pees on the floor in the kitchen, even though I can easily come up with a mechanistic explanation for that.

Our entire notion of moral and legal responsibility is thrown into doubt the minute we fully embrace this truth, so Im not sure we can really afford to own up to the implications of free will being an illusion.

I think thats mostly right. As individuals and a society, Im not sure were ready to face this fact. But we could perhaps do it bits and pieces at a time.

You write that our species has problems with violence. Can you explain this complicated relationship?

The easiest answer is that we're really violent. The much more important one, the much more challenging one, is that we don't hate violence as such we hate the wrong kind of violence, and when it's the right kind of violence, we absolutely do cartwheels to reinforce it and reward it and hand out medals and mate with such people because of it. And thats part of the reason why the worst kinds of violence are so viscerally awful to experience, to bear witness to. But the right kinds of violence are just as visceral, only in the opposite direction.

The truth is that this is the hardest realm of human behavior to understand, but its also the most important one to try to.

What is the wrong kind of violence? What is the right kind of violence?

Of course that tends to be in the eye of the beholder. Far too often, the right kind is one that fosters the fortunes of people just like us in group favoritism, and the worst kinds are the ones that do the opposite.

Violence is a fact of nature all species engage in it one way or other. Are humans the only species that ritualizes it, that makes a sport of it?

That does seem pretty much the case. Certainly you see the hints of it in chimps, for example, where you see order patrols by male chimps in one group, where if they encounter a male from another group, they will kill him. They have now been shown in a number of circumstances to have systematically killed all the males in the neighboring group, which certainly fits a rough definition of genocide, which is to say killing an individual not because of what they did but simply because of what group they belong to.

What's striking with the chimps is that you can tell beforehand that this is where they are heading. They do something vaguely ritualistic, which is they do a whole bunch of emotional contagion stuff. One male gets very agitated, very aroused, manages to get others like that, and then off they go to look for somebody to attack. So in that regard, there is a ritualistic feel to it, but that's easily framed along the conventional lines of nonhuman animal violence. By that, I mean when male chimps do this, when they eradicate all of the other males in a neighboring territory, they expand their own; it increases their reproductive success.

I believe it is really only humans that do violence for purely ritualistic purposes.

Is our tribal past the most important thing to understand about human behavior?

I think it's an incredibly important one, and what's most important about it is to understand the implications of the fact that all of us have multiple tribal affiliations that we carry in our heads and to understand the circumstances that bring one of those affiliations to the forefront over another. The mere fact that you can switch people's categorization of others from race to religion to what sports team they follow speaks to how incredibly complicated and central tribal affiliation is to humans and to human life.

You spend a lot of time talking about the role of symbols and ideas in human life. We kill and we die for our symbols, and we often confuse the symbols themselves for the things they symbolize. Do you think symbols and ideas amplify our tribal nature, or do they help us transcend it?

Well, its important to understand that not only are we willing to kill people because they look, dress, eat things, smell, speak, sing, pray differently from us, but also because they have incredibly different ideas as to very abstract notions. I think the thing that fuels that capacity is how primitively our brains do symbolism.

I think the fact that our brains so readily intermix the abstractions and symbols with their visceral, metaphorical analogues gives those abstractions and symbols enormous power. That fact that were willing to kill and die for abstract symbols is itself crazy, but nonetheless true.

Has civilization made us better?

Absolutely. The big question is which of the following two scenarios are more correct: a) Civilization has made us the most peaceful, cooperative, emphatic we've ever been as a species, versus b) civilization is finally inching us back to the level of all those good things that characterized most of hominin hunter-gatherer history, preceding the invention of agriculture. Amid mostly being an academic outsider to the huge debates over this one, I find the latter view much more convincing.

You say you incline to pessimism but that this book gave you reasons to be optimistic. Why?

Because there's very little about our behaviors that are inevitable, including our worst behaviors. And were learning more and more about the biological underpinnings of our behavior, and that can help us produce better outcomes. As long as you have a ridiculously long view of things, things are getting better.

Its much nicer to be alive today than it was 100 or 200 years ago, and thats because weve progressed. But nothing is certain, and we have to continue moving forward if we want to preserve what progress weve made.

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A Stanford scientist on the biology of human evil - Vox

A quick cheek swab and youre well on your way to learning quite a bit about your genetic risk factors.

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As currently written, the American Health Care Act allows states to opt out of the popular Obamacare provision that bans insurers from discriminating against people with pre-existing conditions. Twenty-seven percent of adult Americans under the age of 65 have a declinable pre-existing condition, according to the Kaiser Family Foundation, and if the AHCA becomes law, any number of them could become uninsured. The guiding GOP arithmetic takes as a given that people should pre-emptively pony up for conditions beyond their controlincluding, yes, having a second X chromosome. Millions more have conditionsfrom asthma to the ever-inconvenient urinary tract infectionthat could also jack up the rate of coverage, making insurance prohibitively expensive.

What their calculations dont yet consider are the could-be conditions embedded in our DNA. Our genomes provide a window into scores of genetic risk factors that have yet to present as full-fledged pre-existing conditions. If the GOP insists that people can be charged differently depending on their current health, whats to say theyll stop short of asserting that we could be charged according to our genomes?

The personal genetics revolution is well-underway. More Americans than ever have access to the information contained in their genetic material. When the Affordable Care Act passed in 2010, the cost of sequencing the 3 billion As, Cs, Gs, and Ts that comprise the human genome rang in at $50,000. Today, that price tag has plummeted to $1,000 with promises of a $100 genome in the near future. Already a mere $99 and a dab of spittle will give consumers a good sense of their genetic risk factors from private genetic testing company 23andMe. Last month, the company received Food and Drug Administration approval to test for predispositions to 10 medical conditions. And even before that came through, customers could upload the raw DNA data generated by 23andMe into interpretation only services like Promethease for a DIY disease risk assessment.

And thats just personal use of genetic informationthe current $1,000 price tag means its already accessible in many medical settings. The question now turns to how the data deluge brought on by the genomics age will be used. Personal genetics can empower patients, doctors, and researchers to make more informed decisions around health care. But while this information could help us make better medical choices, it could also be used to fine-tune insurance algorithms, calculating premiums on a sliding scale of genetic risk.

Americans saw this trade-off coming. The Human Genome Project spurred concerns around genetic discrimination in the 1990s. Over a decade before Obamacares pre-existing conditions protections, patient and civil rights organizations came together to press for protections against genetic discrimination. Thirteen years of advocacy efforts led to the bipartisan passage of the Genetic Information Nondiscrimination Act of 2008. GINA prohibits employers and health insurers from using genetics to influence hiring decisions and insurance coverage.

The legislation was celebrated as the first major civil-rights bill of the century. It eased concerns around genetic discrimination to ultimately encourage people to take advantage of emerging genetic technologies and therapies. GINAs protections helped advance genome research, and today millions of Americans have submitted genetic samples for testing. A government-funded $215 million Precision Medicine Initiative is now underway with the goal of collecting genetic and health data from over 1 million Americans to better inform biomedical research.

That means millions of genotypes that can be used by clinicians and researchers to home in on and characterize genes linked to specific diseases. That also means millions of genotypes that could be factored into the underwriting calculus that prioritizes profits over patients.

Whats to say the GOP will stop short of asserting that we could be charged according to our genomes?

Life, disability, and long-term care insurance, which are not covered under GINAs provisions, already use genetic testing results to deny coverage to otherwise healthy individuals. And when it comes to health insurance, GINA isnt perfect. The legislation only protects people who are genetically predisposed to a disease if they are asymptomatic. Once a person begins showing symptoms, GINA no longer matters. But for a while, Obamacare closed that loophole. When it was enacted, personal genetics was still in its infancy23andMe had less than 50,000 customers at a price tag of $999, and AncestryDNA had yet to launch. So in the years since the ACAs passage, shoring up protections against genetic discrimination has received little legislative attention.

Obamacare repeal reopens the gray area between genetic predisposition and a pre-existing condition. The AHCAs MacArthur amendment would require that states opting out of Obamacares pre-existing conditions rule set up high-risk pools for sick people who incur higher medical costs. But what sick actually means is increasingly up for debate. Does a BRCA1 mutation, which portends a 55 percent to 65 percent risk of developing breast cancer by the age of 70, count as a pre-existing condition when youre 30? When youre 60?

DNA doesnt encode certain destiny: Carrying the BRCA1 mutation offers no more clarity than the percentage given above. But without the ACA, GINA is the only thing stopping insurance companies from practicing genetic determinism when they decide what conditions warrant higher premiums or coverage denial. Republicans, who control every branch of government, have shown that they believe different people should be required to pay different amounts on the basis of what essentially amounts to dumb luck. And we already know they have little interest in regulating corporate interests. Besides, nobody dies because they don't have access to health care, remember?

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Even with GINA and Obamacare protections still in place, Americans remain wary of participating in whole-genome sequencing studies, citing fears of discrimination from life insurance companies. Their skepticism is warranted: For all its attributes, the ACA paradoxically opened a GINA loophole by encouraging employer health care plans to offer discounts for participating in workplace wellness programs. GOP lawmakers recently seized on this idea, introducing legislation to compel employees to share genetic test results with their employers.

We already know the current government is not much interested in sciencebut if that science involves calculating maximizing profit margins at the expense of patient empowerment, they just might perk up.

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Thanks to Genetic Testing, Everyone Could Soon Have a Pre-Existing Condition - Slate Magazine

Science Daily

Natural resistance to malaria linked to variation in human red blood ... Science Daily Researchers have discovered that protection from the most severe form of malaria is linked with natural variation in human red blood cell genes. A study has ... and more »

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Natural resistance to malaria linked to variation in human red blood ... - Science Daily

The worlds top geneticists will come together for the first-ever Joint Symposium in Clinical Genetics May 19 - 21, 2017. The symposium, which will become an annual event, will be hosted at the Postgraduate Education Centre in the School of Public Health at the Prince of Wales Hospital in Hong Kong.

Organized in partnership by the Department of Molecular and Human Genetics at Baylor College of Medicine and the Department of Obstetrics and Gynecology and the Department of Pediatrics at the Chinese University of Hong Kong, the goals of the symposium are to educate and update clinicians and scientists on the application of clinical genetics to genomic medicine and to highlight cutting-edge technologies and scientific discoveries in clinical genetics and genomics. Through the event, the partner organizations hope to lead in the implementation of genetic medicine in Asia.

The symposium will connect experts and leaders in the field from Baylor with those in Hong Kong and across Asia. In addition to the symposium programming, attendees and organizers will celebrate the establishment of the joint CUHK-BCM Center of Medical Genetics, which aims to promote high-quality training and conduct state-of-the-art research in medical genetics.

We are thrilled to see this symposium come to life, said Dr. Brendan Lee, chair of molecular and human genetics at Baylor. Ever since joining forces with the Chinese University Hong Kong, we have wanted to host a conference that would bring all of these talented minds together to discuss the latest developments and research in the field of molecular and human genetics. There is the potential for incredible work to come out of this three-day symposium.

The symposium will play host to key speakers in the field, including Baylors Dr. Igna Van Den Veyver, Dr. Richard Gibbs, Dr. Art Beaudet, Dr. James Lupski and Lee, who also is the Robert and Janice McNair Endowed Chair and Professor of Molecular and Human Genetics, and Dr. Dennis Lo, Dr. Rossa Chiu, Dr. Tak Yeung Leung and Dr, Richard Choy, all with the Chinese University of Hong Kong.

Oral presentations will address relevant topics, including non-invasive prenatal genetic diagnosis, genomic technologies and the future, genetics and neurological diseases, inborn errors of metabolism, genetics and congenital cardiac diseases, genetic screening and counseling of diseases, and genetics and skeletal dysplasia, among others.

For more information about programming, visit the symposiums website.

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International genetics symposium launches in Hong Kong - Baylor College of Medicine News (press release)

Photo: Stefano Bianchetti/Getty Images

Most people tend to have a certain idea about their heritage: that they simply are, well, whatever they are. Scottish or German or Nigerian or whatever else. Maybe theres some other stuff mixed in there, sure, but most people have a sense that theyre from one particular place, and thats where their culture and maybe some of their values originates.

Naturally, DNA tells a more complicated story, and a new article in Science by Ann Gibbons very usefully punctures a bunch of myths, some of them pretty harmful, about human ancestry. The vast majority of us are mutts, it turns out, and oftentimes the genetic heritage we think we have bears little resemblance to whats actually hiding in our chromosomes.

Gibbons starts the article by quoting a German neo-Nazi, doing what neo-Nazis tend to do, expressing alarm about the arrival of Syrian refugees and the prospect of them sullying his precious German genetic heritage.

From there she swiftly moves to the main point of the article:

Using revolutionary new methods to analyze DNA and the isotopes found in bones and teeth, scientists are exposing the tangled roots of peoples around the world, as varied as Germans, ancient Philistines, and Kashmiris. Few of us are actually the direct descendants of the ancient skeletons found in our backyards or historic homelands. Only a handful of groups today, such as Australian Aborigines, have deep bloodlines untainted by mixing with immigrants.

That aforementioned notion of German purity, to take one example, comes from a Nazi mangling of an already somewhat thinly sourced story about a Germanic fighter named Arminius who supposedly led a rebellion against the Romans 2,000 years ago the Nazis portrayed him as a blond-haired member of a supposed master race.

Now, it shouldnt be surprising that Nazis dont have a particularly sophisticated grip on genetics. But this article is still an interesting, comprehensive look at where researchers are in their quest to understand humanitys genetic legacy. And the short, also-unsurprising answer is: Weve moved around a lot and mixed it up a lot.

Gibbonss piece also usefully complicates the notion of genetic superiority, highlighting just how historically contingent this idea is. For example, she writes of two different groups that collided at one point and produced offspring: The unions between the Yamnaya and the descendants of Anatolian farmers catalyzed the creation of the famous Corded Ware culture, known for its distinctive pottery impressed with cordlike patterns According to DNA analysis, those people may have inherited Yamnaya genes that made them taller; they may also have had a then-rare mutation that enabled them to digest lactose in milk, which quickly spread It was a winning combination. The Corded Ware people had many offspring who spread rapidly across Europe. Today, of course, very few people are aware of the Corded Ware culture a group that was very much, for random genetic reasons, in the right place at the right time.

For most of human history, humans havent been great at recording history accurately, so along the way many cultures have developed myths about their lineage, about who was where, when. A lot of the time, the straightforward stories people tell to be proud of themselves and their ancestors are oversimplifications, at best. In the worst cases, these myths lead to ideologies like nationalism.

Its important to understand the appeal and functional role of bloodline myths, of course: This group could sully our bloodlines packs a bit more of a visceral punch than I am nervous this new group will cause the neighborhood to change. Because people dont tend to really understand genetics, and because the subject efficiently taps into many peoples most intimate feelings about disgust and purity, such talk can be a useful way to rile people up, almost always for the worse. Which is why its important to understand just how superficial it really is.

A new study found that when you pair two disagreeable people together, they both get what they want and have more fun in the process.

A new study looks at the sales of an at-home HIV-testing kit and finds some very encouraging results.

The psychology of how we choose who to leave out.

Research suggests that sexism in hiring cant explain the entire gender gap in leadership positions theres other stuff going on, too.

Just about everyone, everywhere, is a complicated mutt, and stories about pure bloodlines are almost always false.

Labels like organic and natural are impossibly vague and often misleading.

Most adults can do a decent job of understanding other peoples internal mental states. Not the leader of the free world.

Or its about to be, at least. Thats just the life cycle of any fad.

It might seem counterintuitive to advertise a place for injection-drug users to shoot up, but theres smart public-health reasoning behind the idea.

Not exactly, but theres some merit to the myth.

Time to find another hangover remedy.

A realization about monogamy that should make anyone getting married feel a little more hopeful.

Its a mixed bag.

The science behind a common-sense piece of advice.

Giving your mind time to wander is a key part of creativity.

Theres a bit of dissent within the American Psychological Association about the role of video games in contributing to violence.

A new TEDx video sums up the research of Bella DePaulo, a social psychologist who has been chipping away at the many myths surrounding marriage.

No matter how long they live in a loud urban environment.

The WHO and the CDC offer different recommendations for proper handwashing technique. Which is right?

Drinking with the author of Cork Dork, a new book about the obsessive world of wine.

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Turns Out Nazis Have Some Pretty Wrong Views About Genetics - New York Magazine

When a group of researchers in the Undiagnosed Disease Network at Baylor College of Medicine realized they were spending days combing through databases searching for information regarding gene variants, they decided to do something about it. By creating MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) they are now able to help not only their own lab but also researchers everywhere search databases all at once and in a matter of minutes.

This collaborative effort among Baylor, the Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital (NRI) and Harvard Medical School is described in the latest online edition of the American Journal of Human Genetics.

Big data search engine

One big problem we have is that tens of thousands of human genome variants and phenotypes are spread throughout a number of databases, each one with their own organization and nomenclature that arent easily accessible, said Julia Wang, an M.D./Ph.D. candidate in the Medical Scientist Training Program at Baylor and a McNair Student Scholar in the Bellen lab, as well as first author on the publication. MARRVEL is a way to assess the large volume of data, providing a concise summary of the most relevant information in a rapid user-friendly format.

MARRVEL displays information from OMIM, ExAC, ClinVar, Geno2MP, DGV, and DECIPHER, all separate databases to which researchers across the globe have contributed, sharing tens of thousands of human genome variants and phenotypes. Since there is not a set standard for recording this type of information, each one has a different approach and searching each database can yield results organized in different ways. Similarly, decades of research in various model organisms, from mouse to yeast, are also stored in their own individual databases with different sets of standards.

Dr. Zhandong Liu, assistant professor in pediatrics neurology at Baylor, a member of the NRI and co-corresponding author on the publication, explains that MARRVEL acts similar to an internet search engine.

This program helps to collate the information in a common language, drawing parallels and putting it together on one single page. Our program curates model organism specific databases to concurrently display a concise summary of the data, Liu said.

Reference

Julia Wang, Rami Al-Ouran, Yanhui Hu et al. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. The American Journal of Human Genetics, 2017; DOI: 10.1016/j.ajhg.2017.04.010

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Making Big Data More Accessible | Technology Networks - Technology Networks

New York Times

The Genetics of Pooched-Out Pooches New York Times It is still unclear exactly what role genetics plays in human obesity. Studies comparing twins have suggested that a person's individual weight is as much as 70 percent determined by genes. Among adults, fewer than 1 percent of cases are thought to be ...

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The Genetics of Pooched-Out Pooches - New York Times

While these preferences have been around for as long as wine has been in existence, very little is known about why these preferences occur and more specifically how they might be regulated in the human body. There have been some studies looking at overall alcohol consumption habits and genetics, though much of this has been focused on intake and not necessarily preference.

The study published [originally] in the European Journal of Human Genetics, aimed to perform a genome-wide study on various populations to determine if there are any possible genetic links toward wine preference, specifically toward the liking of white wine.

A total of 5 populations were studied, including three from various areas in Italy, one from the Netherlands, and one from Central Asia. A total of 3885 individuals were included in this study.

The results of this study suggest that having a preference for white wine may be in part controlled by the HLA-DOA gene, specifically the rs9276975 SNP region. Additionally, this genetic link to preference may be stronger in women than in men.

[Read the full study here.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Wine Preference Linked to Genetics: Study Finds Liking White Wine is Associated With a Specific Gene

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Red or white wine? Genetics may determine what you like to drink - Genetic Literacy Project