Daily Archives: August 5, 2017

BETHESDA, Md., Aug. 4, 2017 /PRNewswire-USNewswire/ --Madhuri Hegde, PhD, FACMG of PerkinElmer, Inc. in Waltham, MA has been elected to the ACMG Foundation for Genetic and Genomic Medicine Board of Directors, the supporting educational foundation of the American College of Medical Genetics and Genomics. The ACMG Foundation is a national nonprofit foundation dedicated to facilitating the integration of genetics and genomics into medical practice. The board members are active participants in serving as advocates for the Foundation and for advancing its policies and programs. Dr. Hegde has been elected to a 2-year renewable term starting immediately.

Dr. Hegde joined PerkinElmer in 2016 as Vice President and Chief Scientific Officer, Global Genetics Laboratory Services. She also is an Adjunct Professor of Human Genetics in the Department of Human Genetics at Emory University. Previously, Dr. Hegde was Executive Director and Chief Scientific Officer at Emory Genetics Laboratory in Atlanta, GA and Professor of Human Genetics and Pediatrics at Emory University and Assistant Professor, Department of Human Genetics and Senior Director at Baylor College of Medicine in Houston, TX.

Dr. Hegde has served on a number of Scientific Advisory Boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and Neuromuscular Disease Foundation. She was a Board member of the Association for Molecular Pathology and received the Outstanding Faculty Award from MD Anderson Cancer Center. She earned her PhD in Applied Biology from the University of Auckland in Auckland, New Zealand and completed her Postdoctoral Fellowship in Molecular Genetics at Baylor College of Medicine in Houston, TX. She also holds a Master of Science in Microbiology from the University of Mumbai in India. She has authored more than 100 peer-reviewed publications and has given more than 100 keynote and invited presentations at major national and internal conferences.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the College and supporter of both the College and the Foundation," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The complete list of the ACMG Foundation board of directors is at http://www.acmgfoundation.org.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to help train the next generation of medical geneticists, to sponsor the development of practice guidelines, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support the work of the Foundation, please visit http://www.acmgfoundation.org or contact us at rel="nofollow">acmgf@acmgfoundation.org or 301-718-2014.

Contact Kathy Beal, MBA ACMG Media Relations, rel="nofollow">kbeal@acmg.net

View original content with multimedia:http://www.prnewswire.com/news-releases/madhuri-hegde-phd-is-elected-to-the-board-of-the-acmg-foundation-for-genetic-and-genomic-medicine-300499860.html

SOURCE American College of Medical Genetics and Genomics

More here:
Madhuri Hegde, PhD is Elected to the Board of the ACMG Foundation for Genetic and Genomic Medicine - Markets Insider

Researchers have successfully edited the genes of viable human embryos to repair mutations that cause a dangerous heart condition. The team published their controversial research in the journal Nature.

The versatile gene-editing technique known as CRISPR-Cas9 is no stranger to headlines. Scientists have already used it to breed tiny pigs, detect disease, and even embed GIFs in bacteria. As our understanding of the process grows more advanced and sophisticated, many researchers have wondered how it could be applied to human beings.

For the new study, an international team of researchers fertilized healthy human eggs with sperm from men with a disease called hypertrophic cardiomyopathy, a condition that can lead to sudden death in young people. The mutation responsible for the disease affects a gene called MYBPC3. Its a dominant mutation, which means that an embryo only needs one bad copy of the gene to develop the disease.

Or, considered another way, this means that scientists could theoretically remove the disease by fixing that one bad copy.

Eighteen hours after fertilizing the eggs, the researchers went back in and used CRISPR-Cas9 to snip out mutated MYBPC3 genes in some of the embryos and replace them with healthy copies. Three days later, they checked back in to see how their subjectswhich were, at this point, still microscopic balls of cellshad fared.

The treatment seemed successful. Compared to subjects in the control group, a significant number of edited embryos appeared mutation- and disease-free. The researchers also found no evidence that their intervention had led to any unwanted new mutations, although it is possible that the mutations were there and overlooked.

Our ability to edit human genes is improving by the day. But, many ethicists argue, just because we can do it doesnt mean that we should. The United States currently prohibits germline editing of human embryos by government-funded researchers. But theres no law against such experimentation in privately funded projects like this one.

The same day the new study was published, an international committee of genetics experts issued a consensus statement advising against editing any embryo intended for implantation (pregnancy and birth).

"While germline genome editing could theoretically be used to prevent a child being born with a genetic disease, its potential use also raises a multitude of scientific, ethical, and policy questions, Derek T. Scholes of the American Society of Human Genetics said in a statement. These questions cannot all be answered by scientists alone, but also need to be debated by society."

Ethicists and sociologists are concerned by the slippery slope of trying to build a better human. Many people with chronic illness and disability live happy, complete lives and report that theyre limited more by discrimination than by any medical issues.

Disability studies expert Lennard Davis of the University of Illinois says we cant separate scientific decisions from our societys history of violence against, and oppression of, disabled and sick people.

A lot of this terrific science and technology has to take into account that the assumption of what life is like for people who are different is based on prejudice against disability, he told Nature in 2016.

Rosemary Garland-Thomson is co-director of the Disability Studies Initiative at Emory University. Speaking to Nature, she said we are at a cultural and ethical precipice: At our peril, we are right now trying to decide what ways of being in the world ought to be eliminated.

Continue reading here:
Scientists Remove Disease-Causing Mutations from Human Embryos - Mental Floss

DNA research is shining new light on the Biblical Canaanite civilization, which existed thousands of years ago in the Middle East.

The ancient civilization, which created the first alphabet and is mentioned frequently in the Bible, has long fascinated historians. LiveScience reports that, because the Canaanites kept their records on papyrus, rather than clay, relatively little is known about them.

Now, however, scientists have found a genetic trail back to the Canaanites ancient world.

By sequencing the genomes of five Canaanites that lived 4,000 years ago with genomes from 99 people living in modern day Lebanon, researchers identified a strong genetic link to the mysterious civilization.

The results surprised the scientists, whose work was supported by UK biomedical research charity The Wellcome Trust.

In light of the enormously complex history of this region in the last few millennia, it was quite surprising that over 90 percent of the genetic ancestry of present-day Lebanese was derived from the Canaanites, said Chris Tyler-Smith, senior group leader at The Wellcome Trust Sanger Institute, in a statement.

In addition to the ancient Canaanite DNA, the analysis of genomes from the modern day Lebanese people also showed a small proportion of Eurasian ancestry that may have come from conquests by Assyrians, Persians or Macedonians, according to the experts.

The researchers also discovered that the ancient Canaanites were a mixture of local people, who settled in farming villages during the Neolithic period, and eastern migrants who arrived about 5,000 years ago. Using ancient DNA we show for the first time who were (genetically) the ancient Canaanites, how they were related to other ancient populations and what was their fate, explained Marc Haber, a genetic data expert at The Wellcome Trust Sanger Institute, in an email to Fox News. Our work shows the power of genetics in filling gaps in human history when the historical records are absent or scarce.

Haber added that the results complement Biblical accounts of the Canaanites. While the Israelites are commanded to utterly destroy the Canaanites in Deuteronomy 20:16-18, Judges 1 describes the survival of a number of Canaanite communities.

Canaanites once lived in what we now recognize as Israel, the Palestinian territories, Lebanon, Syria and Jordan. The remains of the five ancient Canaanites studied as part of the DNA research were recovered in the modern-day Lebanese city of Sidon.

The research was published in the American Journal of Human Genetics on July 27.

Go here to see the original:
Scientists find genetic 'trail' to mysterious Biblical civilization - New York Post