Category Archives: Human Genetics

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Newswise BETHESDA, MD January 29, 2014 The Genetics Society of America (GSA) is pleased to announce its 2014 Award Recipients. The five individuals honored are recognized by their peers for outstanding achievements and contributions to the genetics community.

The 2014 GSA award winners are impressive scientists who collectively have positively influenced the field of genetics in research, in education, and in fostering the genetics community, said GSA President Vicki Chandler, PhD. These awards provide an annual opportunity for the genetics community to recognize those individuals whose superb achievements have advanced the science of genetics. On behalf of GSA, I thank each of the award winners for a lasting contribution to the field.

The award recipients, who will receive their awards at GSA conferences during 2014, are:

Frederick M. Ausubel, PhD (Harvard Medical School and Massachusetts General Hospital) has been awarded the Thomas Hunt Morgan Medal for lifetime contributions to the field of genetics.

Angelika B. Amon, PhD (Massachusetts Institute of Technology and Howard Hughes Medical Institute) has been awarded the Genetics Society of America Medal for outstanding contributions to the field of genetics during the past 15 years.

Hugo J. Bellen, DVM, PhD (Baylor College of Medicine and Howard Hughes Medical Institute) has been awarded the George W. Beadle Award for outstanding contributions to the community of genetics researchers.

Charles Boone, PhD (University of Toronto) has been awarded the Edward Novitski Prize, which recognizes an extraordinary level of creativity and intellectual ingenuity in solving significant problems in genetics research.

Robin Wright, PhD (University of Minnesota) has been awarded the Elizabeth W. Jones Award for Excellence in Education, which recognizes significant and sustained impact in genetics education.

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Genetics Society of America Selects Five Geneticists to Receive Society's 2014 Awards

PUBLIC RELEASE DATE:

29-Jan-2014

Contact: Adam P. Fagen afagen@genetics-gsa.org 301-634-7300 Genetics Society of America

BETHESDA, MD January 29, 2014 The Genetics Society of America (GSA) is pleased to announce its 2014 Award Recipients. The five individuals honored are recognized by their peers for outstanding achievements and contributions to the genetics community.

"The 2014 GSA award winners are impressive scientists who collectively have positively influenced the field of genetics in research, in education, and in fostering the genetics community," said GSA President Vicki Chandler, PhD. "These awards provide an annual opportunity for the genetics community to recognize those individuals whose superb achievements have advanced the science of genetics. On behalf of GSA, I thank each of the award winners for a lasting contribution to the field."

The award recipients, who will receive their awards at GSA conferences during 2014, are:

Frederick M. Ausubel, PhD (Harvard Medical School and Massachusetts General Hospital) has been awarded the Thomas Hunt Morgan Medal for lifetime contributions to the field of genetics.

Angelika B. Amon, PhD (Massachusetts Institute of Technology and Howard Hughes Medical Institute) has been awarded the Genetics Society of America Medal for outstanding contributions to the field of genetics during the past 15 years.

Hugo J. Bellen, DVM, PhD (Baylor College of Medicine and Howard Hughes Medical Institute) has been awarded the George W. Beadle Award for outstanding contributions to the community of genetics researchers.

Charles Boone, PhD (University of Toronto) has been awarded the Edward Novitski Prize, which recognizes an extraordinary level of creativity and intellectual ingenuity in solving significant problems in genetics research.

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Genetics Society of America selects 5 geneticists to receive society's 2014 awards

WASHINGTON Next time you call someone a Neanderthal, better look in a mirror.

Many of the genes that help determine most people's skin and hair are more Neanderthal than not, according to two new studies that look at the DNA fossils hidden in the modern human genome.

About 50,000 years ago, modern day humans migrated out of Africa north to Europe and East Asia and met up with furrow-browed Neanderthals that had been in the colder climates for more than 100,000 years. Some of the two species mated. And then the Neanderthals died off as a species except for what's left inside of us.

Scientists isolated the parts of the non-African modern human genetic blueprint that still contain Neanderthal remnants. Overall, it's barely more than 1 percent, said two studies released Wednesday in the journals Nature and Science.

However, in some places, such as the DNA related to the skin, the genetic instructions are as much as 70 percent Neanderthal and in other places there's virtually nothing from the species that's often portrayed as brutish cavemen.

- University of Washington genome scientist Joshua Akey

The difference between where Neanderthal DNA is plentiful and where it's absent may help scientists understand what in our genome "makes humans human," said University of Washington genome scientist Joshua Akey, lead author of the paper in Science.

Harvard researcher Sriram Sankararaman, the lead author of the Nature study, said the place where Neanderthal DNA seemed to have the most influence in the modern human genome has to do with skin and hair. Akey said those instructions are as much as 70 percent Neanderthal.

"We're more Neanderthal than not in those genes," Akey said.

However, Sankararaman cautions that scientists don't yet know just what the Neanderthal DNA dictates in our skin and hair.

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Neanderthal genes are in you

The amorous unions between modern humans and Neanderthals may have led to sons who weren't much good at fathering children themselves, a new study suggests. The findings hint that hybrid boys were partially infertile or perhaps entirely sterile due to the incompatibility of human and Neanderthal DNA. Bolstering those results, a second new study finds that some of the Neanderthal DNA that entered the human genome as a result of interbreeding seems to have made for more feeble offspring.

But both studies also find evidence that Neanderthals bequeathed useful DNA to humans ?? DNA that seems to have helped Homo sapiens adapt to new locales after they left their homeland in Africa. Whether the interbreeding was a net gain or a net loss for humans may never be determined, say the scientists involved.

"It's impossible to come to a simple conclusion like 'It was beneficial' or 'It was deleterious,' or 'It was not helpful,' " says University of Washington evolutionary geneticist Joshua Akey, an author of one of the new papers. "It was all of those things simultaneously. In different parts of our genome, (mixing) was advantageous. In other parts of our genome, it was not a good thing."

When modern humans moved out of Africa into Eurasia some 100,000 years ago, they found Neanderthals there to greet them. The two groups may have made war, but they certainly also made love. Today's Europeans and East Asians owe 1% to 2% of their DNA to Neanderthals, but the impact of those additions has been unclear.

To find out more, rival teams used different methods to conduct the first systematic surveys for Neanderthal genetic material in the DNA of modern humans. Despite their different techniques, both teams found evidence of Neanderthal DNA in genome regions involved with the production of keratin, a protein in skin and hair - a sign that the Neanderthal DNA was likely to have been beneficial. Perhaps the Neanderthal DNA helped make skin and hair more suitable for the Eurasian climate, or more resistant to the local germs. One set of findings was reported in this week's Nature, the other by Akey and a colleague in this week's Science.

Before modern humans arrived in Eurasia, "Neanderthals were living (there) for hundreds of thousands of years, and so they had genetics that were adapted to the environment," says statistical geneticist Sriram Sankararaman of Harvard Medical School, an author of the Nature paper. "Modern humans were moving into these same areas, and the genes they acquired from Neanderthals could have been beneficial." His group also found Neanderthal DNA in areas of the human genome that affect diseases such as type-2 diabetes, but the researchers can't say exactly how the Neanderthal genetic material affects human health today.

Both teams also found evidence that human-Neanderthal mating wasn't always good for the resulting children. Long stretches of DNA in living humans are devoid of Neanderthal DNA, suggesting it was purged from the human genome because of its negative effects. Perhaps offspring with the Neanderthal DNA were less likely to survive adulthood, or perhaps they were less likely to have children of their own. The Nature study indicates that some Neanderthal DNA, when introduced to the modern-human genome, led to male children with lower fertility.

That's a surprising result, says population geneticist Montgomery Slatkin of the University of California, Berkeley, who was not involved with the new research.

"I honestly thought (Neanderthals and modern humans) could interbreed freely, in the same way that different groups of modern humans can interbreed freely," Slatkin says. "And that is evidently not the case."

Instead the results "seem to confirm that Neanderthals and moderns were basically on separate evolutionary trajectories despite a little hanky-panky along the way," Ian Tattersall, curator emeritus at the American Museum of Natural History, says via e-mail.

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Neanderthal, human mixing had gene benefits, drawbacks

PUBLIC RELEASE DATE:

27-Jan-2014

Contact: Jennifer Burke burkej@kennedykrieger.org 443-923-7329 Kennedy Krieger Institute

Baltimore, Md. (January 27, 2014) Researchers at the Kennedy Krieger Institute recently announced study findings showing the successful development of a humanized preclinical model for facioscapulohumeral muscular dystrophy (FSHD), providing scientists with a much needed tool to accelerate novel therapeutic research and development.

Published in Human Molecular Genetics, the study outlines the validity of a unique model that, for the first time, mirrors the gene expression and biomarker profile of human FSHD tissue. Previously, there has been no accepted preclinical model for FSHD, a complex and rare neuromuscular disorder that affects approximately 4-7 per 100,000 individuals. As a result, therapeutic development for the disorder has been stymied.

"The inability to mimic the FSHD's genetic mechanism in preclinical models has been an ongoing challenge for the research community. Without an accurate model, making the leap to clinical research commonly fails," said Kathryn Wagner MD, PhD, director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute in Baltimore, MD. "We believe this unique model will open the door to studying muscle regeneration over time and help better predict clinical response to therapeutic drugs."

Inspired by cancer preclinical models developed with human tumor tissue, Dr. Wagner and her research team leveraged both basic science and clinical research resources available at Kennedy Krieger to successfully regenerate grafted muscle within the models. Human bicep muscle biopsies transplanted into models survived for over 41 weeks and retained features of normal and diseased tissue.

"This model is not only applicable to genetic muscle diseases for which we lack appropriate research models, but for other acquired muscle conditions," said Wagner. "Now there will be more research possibilities related to the overall impact of age and disease on the regenerative and growth capacity of human skeletal muscle."

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The study was conducted by researchers at multiple institutions, including Johns Hopkins University School of Medicine; University of Massachusetts Medical School; Harvard Medical School; University of Maryland School of Nursing; University of Maryland School of Medicine; and Children's National Medical Center, Washington, D.C.

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Successful regeneration of human skeletal muscle in mice

Lexington, Mass. (PRWEB) January 24, 2014

As published online today in Human Molecular Genetics, support from the FSH Society, a patient-driven nonprofit, has enabled people with facioscapulohumeral muscular dystrophy (FSHD) to donate muscle tissue, which scientists have succeeded in grafting into mice, providing a new tool for conquering this devastating muscle-wasting disease. Among the most common forms of muscular dystrophy, FSHD affects an estimated 500,000 people around the world.

Since the discovery of FSHDs genetic mechanism in 2010, scientists have been forging ahead to find drugs and genetic therapies that could block this mechanism. But there remain major obstacles in the path to a treatment. One of the most significant roadblocks is the lack of a preclinical research model that can be used to study the disease in depth and to evaluate new therapies.

Building an FSHD model has proven to be a substantial challenge. The genetic mechanism of FSHD is extraordinarily complex, with components that do not exist in mice. To overcome this difficulty, a multi-institutional team led by Kathryn Wagner, MD, PhD, Director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute and The Johns Hopkins School of Medicine decided to transplant human muscle into mice, grafting tissue taken surgically from the biceps of FSHD patients into the leg muscles in living mice.

The grafted muscles received a blood supply and nerve signals from the host mice, which were bred with defective immune systems to prevent rejection of the foreign tissue. The grafts survived for more than 40 weeks, during which time they regenerated. The grafted muscles could contract like normal muscle, and retained the cellular and genetic characteristics of muscle from a human with FSHD.

Most potential novel therapies fail to successfully translate from animals to humans, says Wagner. Growing human tissues in animals (xenografts) has previously led to the successful development of therapies for multiple cancers and now, with this new muscle xenograft model, we are hopeful that new therapies for muscular dystrophy will emerge.

The studys authors thanked the FSH Society for its invaluable help recruiting FSHD patients to participate in the research. The disease is inherited, though it can be caused by a spontaneous mutation, and strikes young and old, both male and female. It melts away skeletal muscle, with symptoms usually noticeable by young adulthood. It is progressive, chronic and there is no cure or treatment. The name comes from the areas of the body where it often is first seen the face, shoulders and upper arms but it weakens muscles throughout the body. About one third of patients end up in a wheelchair.

Study co-authors came from the Kennedy Krieger Institute, Baltimore, Maryland; University of Massachusetts Medical School, Worcester, Massachusetts; Harvard Medical School, Boston, Massachusetts; University of Maryland School of Nursing, Baltimore; University of Maryland School of Medicine, Baltimore; and Childrens National Medical Center, Washington, D.C.

The research was supported by the National Institutes of Health (NIH) and the Muscular Dystrophy Association. This work was also made possible by the National Center for Research Resources (NCRR) a component of the NIH, and NIH Roadmap for Medical Research.

Reference: Yuanfan Zhang, Oliver D. King, Fedik Rahimov, Takako I. Jones, Christopher W. Ward, Jaclyn P. Kerr, Naili Liu, Charles P. Emerson, Jr., Louis M. Kunkel, Terence A. Partridge, Kathryn R. Wagner. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Human Molecular Genetics.

Originally posted here:
Human Muscle Growing in Mice Provides a New Research Tool for FSH Muscular Dystrophy

Ethics of Pharmacogenomics
Wylie Burke, M.D., PhD. is chair of the Department of Bioethics and Humanities at the University of Washington and an adjunct professor of medicine and epide...

By: Mayo Clinic

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Ethics of Pharmacogenomics - Video

According to a new study, published in the European Journal of Human Genetics, the most recent common male ancestor to humans existed 209,000 years ago 9,000 years earlier than scientists had previously thought. The findings place the earliest female ancestor, "Eve," within the same timeframe as her male counterpart.

"We can say with some certainty that modern humans emerged in Africa a little over 200,000 years ago," Eran Elhaik of the University of Sheffield said in a statement.

The latest findings contradict a recent study that suggested Adam was twice as old as Eve on the basis that the Y chromosome originated in a different species through interbreeding. They also debunked a separate study that said the discovery of the Y chromosome predated humanity.

"We have shown that the University of Arizona study lacks any scientific merit. In fact, their hypothesis creates a sort of 'space-time paradox,' whereby the most ancient individual belonging to Homo sapiens species has not yet been born, Elhaik said. "Think of the movie 'Back to the Future,' when Marty was worried that his parents would not meet and as a result he wouldnt be born -- its the same idea.

The latest research used conventional biological models to date the most common male ancestor. The research team calculated the age of the Y chromosome by multiplying data on the average age fathers have their first child with the number of mutations they found. This number was then divided by the mutation rate of the Y chromosome.

Of course, we can manipulate each one of these variables to make a finding look younger or older, Elhaik told The Daily Mail. In our paper, we showed the previous study manipulated all these variables to predate the Y chromosome.

While the study challenges other conclusions, it raises more questions concerning the behavior of ancient humans.

"It is obvious that modern humans did not interbreed with hominins living over 500,000 years ago. It is also clear that there was no single 'Adam' and 'Eve' but rather groups of 'Adams' and 'Eves' living side by side and wandering together in our world, Elhaik said. The question to what extent did our human forbearers interbreed with their closest relatives is one of the hottest questions in anthropology that remains open.

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How Old Is Adam? Scientists Claim Earliest Male Ancestor Emerged 209,000 Years Ago

Carlos Silva: How Flights, Tech Speeds Up Scientific Discovery
"I think it #39;s great we #39;re now able to amass the power of so many different people all over the world to reach a common goal." Carlos Silva talks about the wa...

By: Lufthansa

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Carlos Silva: How Flights, Tech Speeds Up Scientific Discovery - Video

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Newswise LOUISVILLE, Ky. Excess abdominal fat can be a precursor to diseases such as cardiovascular disease, type 2 diabetes and cancer. A persons measure of belly fat is reflected in the ratio of waist circumference to hip circumference, and it is estimated that genetics account for about 30-60 percent of waist-to-hip ratio (WHR).

Kira Taylor, Ph.D., M.S., assistant professor, University of Louisville School of Public Health and Information Sciences, and her research team have identified five new genes associated with increased WHR, potentially moving science a step closer to developing a medication to treat obesity or obesity-related diseases.

The researchers recently published their findings in Human Molecular Genetics. The team conducted an analysis of more than 57,000 people of European descent, and searched for genes that increase risk of high waist-to-hip ratio, independent of overall obesity. They investigated over 50,000 genetic variants in 2,000 genes thought to be involved in cardiovascular or metabolic traits.

Their analysis identified three new genes associated with increased WHR in both men and women, and discovered two new genes that appear to affect WHR in women only. Of the latter, one gene, SHC1, appears to interact with 17 other proteins known to have involvement in obesity, and is highly expressed in fat tissue. In addition, the genetic variant the team discovered in SHC1 is linked to another variant that causes an amino acid change in the protein, possibly changing the function or expression of the protein.

This is the first time SHC1 has been associated with abdominal fat, Taylor said. We believe this discovery holds great opportunity for medicinal chemistry and eventually, personalized medicine. If scientists can find a way to fine-tune the expression of this gene, we could potentially reduce the risk of excessive fat in the mid-section and its consequences, such as cardiovascular disease.

Prior research has found that mice lacking the SHC1 protein are leaner, suggesting this molecule may have a role in metabolic imbalance and premature cell deterioration by supplying too much nutrition for normal growth and development.

Additional evidence finds SHC1 activates the insulin receptor, triggering multiple signaling events that affect fat cell growth.

View this press release on-line.

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Epidemiologist Uncovers New Genes Linked to Abdominal Fat