Daily Archives: March 2, 2015

Bethesda, MD and Fort Washington, PA (PRWEB) March 02, 2015

The American Society of Human Genetics (ASHG) and ReachMD announced today the launch of Genetically Speaking, a series of audio interviews designed to educate healthcare professionals on the application of human genetics in disease prevention and management.

The series features peer-to-peer interviews conducted during the ASHG 2014 Annual Meeting and includes topics such as:

One of our primary goals at ASHG is to develop a healthcare workforce that is genetics-literate and capable of interpreting and applying information in clinical practice, said Joseph D. McInerney, MA, MS, Executive Vice President of ASHG. We are excited to team up with ReachMD to produce and deliver peer-to-peer programming to healthcare professionals nationwide.

Genetically Speaking is co-produced by ASHG and ReachMD and broadcast on ReachMDs integrated online, mobile, and on air content distribution network. Content is accessible both on demand and through 24/7 radio streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms.

This series is an excellent addition to the ReachMD lineup, said Matt Birnholz, MD, Vice President and Medical Director of ReachMD. Our users love cutting-edge programming, and the scientific and medical experts on this series really showcase the latest research and the applications of genetics in disease prevention and management.

About the American Society of Human Genetics (ASHG) Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit: http://www.ashg.org.

About ReachMD ReachMD is a multi-channel medical broadcasting company delivering education and information to healthcare professionals through an integrated online, mobile, and on air distribution network. Programming is delivered both on demand and through 24/7 streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms. ReachMD has produced more than 8,000 medical broadcasts, making it the leading source of on air, online, and mobile medical education and information. More information can be found at http://www.ReachMD.com.

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American Society of Human Genetics (ASHG) and ReachMD Launch Series on Genetics and Genomics

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Newswise Philadelphia, March 2, 2015 Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.

This syndrome illuminates a very important pathway in early human developmenta sort of master switch that controls many other genes, said study leader Ian D. Krantz, M.D., co-director of the Individualized Medical Genetics Center at The Childrens Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOPs comprehensive human genetics program.

Krantz is the senior author of the study, published online today in Nature Genetics. His co-study leader is Katsuhiko Shirahige, Ph.D., of the Institute for Molecular and Cellular Biosciences, University of Tokyo, also the home institution of first author Kosuke Izumi.

The investigators named the disorder CHOPS syndrome, with the acronym representing a group of symptoms seen in the affected children: cognitive impairment and coarse facies (facial features), heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia (abnormal bone development).

The central research finding is that mutations in the gene AFF4 disrupt a crucial group of proteins called the super elongation complex (SEC). The SEC controls the transcription process by which DNA is copied into RNA, enabling genes to be expressed in a developing embryo. The timing of this biological process is tightly regulated, so anything that interferes with this timing can disturb normal development in a variety of ways.

Because the SEC involves such a crucial process in cell biology, it has long been a focus of study, particularly in cancer, said Krantz. CHOPS syndrome is the first example of a human developmental disorder caused by germline mutations in the SEC.

Originating in the embryo, germline mutations are passed along to every cell in a developing organism, with harmful effects in multiple organs and biological systems. The mutated AFF4 gene produces mutated proteins, which then accumulate and cause a cascade of abnormalities in other genes controlled by AFF4.

AFF4 has a critical role in human development, regulating so many other genes, said Krantz. When it is mutated, it can damage the heart and skeleton, and lead to intellectual disability, among other effects.

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New Genetic Syndrome Found, Arising From Errors in 'Master Switch' During Early Development

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Newswise CHAPEL HILL, NC You might resemble or act more like your mother, but a novel research study from UNC School of Medicine researchers reveals that mammals are genetically more like their dads. Specifically, the research shows that although we inherit equal amounts of genetic mutations from our parents the mutations that make us who we are and not some other person we actually use more of the DNA that we inherit from our dads.

The research, published in the journal Nature Genetics, has wide implications for the study of human disease, especially when using mammalian research models. For instance, in many mouse models created for the study of gene expression related to disease, researchers typically dont take into account whether specific genetic expression originates from mothers or fathers. But the UNC research shows that inheriting a mutation has different consequences in mammals, depending on whether the genetic variant is inherited from the mother or father.

This is an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics, said Fernando Pardo-Manuel de Villena, PhD, professor of genetics and senior author of the paper. Weve known that there are 95 genes that are subject to this parent-of-origin effect. Theyre called imprinted genes, and they can play roles in diseases, depending on whether the genetic mutation came from the father or the mother. Now weve found that in addition to them, there are thousands of other genes that have a novel parent-of-origin effect.

These genetic mutations that are handed down from parents show up in many common but complex diseases that involve many genes, such as type-2 diabetes, heart disease, schizophrenia, obesity, and cancers. Studying them in genetically diverse mouse models that take parent-of-origin into account will give scientists more precise insights into the underlying causes of disease and the creation of therapeutics or other interventions.

The key to this research is the Collaborative Cross the most genetically diverse mouse population in the world, which is generated, housed, and distributed from UNC. Traditional lab mice are much more limited in their genetic diversity, and so they have limited use in studies that try to home in on important aspects of diseases in humans. The Collaborative Cross bred together various wild type mice to create wide diversity in the mouse genome. Pardo-Manuel de Villena said that this diversity is comparable to the variation found in the human genome. This helps scientists study diseases that involve various levels of genetic expression across many different genes.

Gene expression connects DNA to proteins, which then carry out various functions inside cells. This process is crucial for proper human health. Mutations that alter gene expression are called regulatory mutations.

This type of genetic variation is probably the most important contributor not to simple Mendelian diseases where theres just one gene mutation [such as cystic fibrosis] but to much more common and complex diseases, such as diabetes, heart disease, neurological conditions, and a host of others, Pardo-Manuel de Villena said. These diseases are driven by gene expression, not of one gene but of hundreds or thousands of genes.

The Collaborative Cross and the expertise we have at UNC allow us to look at different gene expression for every gene in the genome of every kind of tissue, said Pardo-Manuel de Villena, who directs the Collaborative Cross.

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Genetically Speaking, Mammals Are More Like Their Fathers