Category Archives: Human Genetics

Contact Information Available for logged-in reporters only 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 … Continue reading →

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 … Continue reading →

Contact Information Available for logged-in reporters only 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 … Continue reading →

TIME Science Research Humans Are Genetically More Similar to Their Fathers, Study Finds Sorry mom Every parent wants their child to be just like them, but new research shows that dads may have an advantage at least from a genetic standpoint. According to a study by the University of North Carolinas School of Medicine and published in the journal Nature Genetics, mammals use more DNA from the father than the mother when undergoing mutations the genetic process that makes us who we are. The researchers, led by genetics professor and senior author Fernando Pardo-Manuel de Villena, tested the genetic mutations of specially crossbred mice to see which mutations altered gene expression. Of the 80% that did, several hundred genes showed a genome-wide expression imbalance in favor of the dad, first author James Crowley told Science Daily. This imbalance resulted in offspring whose brain-gene expression was significantly more like their fathers. The authors believe a similar bias would exist for human subjects. Pardo-Manuel de Villena called the results an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics. [Science Daily] Here is the original post: Humans Are Genetically More Similar to Their … Continue reading →

A better understanding of genetics role in mental illness will lead to better treatments, according to scientists who participated Thursday in the Massachusetts General Hospital Leadership Council for Psychiatrys ninth annual mental health symposium. Scientists first identified genetic risk factors related to mental disorders about six years ago, said Dr. Jordan Smoller, director of the psychiatric and neurodevelopmental genetics unit in the hospitals Center for Human Genetics Research. Since then, nearly 200 genetic risk factors have been confirmed, Smoller said. Genetic markers overlap in five disorders bipolar, schizophrenia, depression, attention deficit hyperactivity disorder and autism, Smoller said. Were seeing some of these connections and the hope is (that) were going to be able to move towards a diagnostic system that is not simply based upon symptoms but on an understanding of the underlying mechanisms of mental illness, he said. Another speaker, Dr. Sabine Wilhelm, chief of psychology, discussed body dysmorphic disorder. About 2 percent of Americans have the condition, Wilhelm said. People with the disorder are preoccupied with a perceived flaw or flaws in their appearance. This intense focus on appearance is linked with an increased risk of depression and/or anxiety. People with the condition are 45 times more likely … Continue reading →

Baylor College of Medicine experts will give an update on the latest research and best practices in medical care for Marfan syndrome, a genetic disorder of connective tissue that affects the skeletal system, cardiovascular system, eyes, and skin, in a public forum Feb. 17at the Childrens Museum of Houston. The forum will feature Dr. John Belmont, professor of molecular and human genetics at Baylor and a pediatric geneticist at Texas Childrens Hospital; Dr. Shaine Morris, assistant professor of pediatrics at Baylor and a pediatric cardiologist at Texas Childrens Hospital; Andi Lewis, a genetic counselor at Baylor and Texas Childrens Hospital; Judy Gibaldi, acting president and CEO of The Marfan Foundation and Rod Gray, a parent advocate. The experts will discuss results of a recent large study, as well as best practices in medical care and resources regarding Marfan Syndrome. Sponsored by Baylor and Texas Childrens, the event is part of the monthly Evening with Genetics lecture series organized by Baylors Department of Molecular and Human Genetics. The series offers current information regarding care, education and research about genetic disorders. The program is free and open to the public. It will be held at 7 p.m. at the Childrens Museum of … Continue reading →

Menu 14 Review - Human Genetics This video is a synopsis of chapter 14 and highlights the major topics: karyotypes, genetic diseases, pedigree analysis, sex-linked traits, and nondisjunction. By: MrDBioCFC … Continue reading →

Contact Information Available for logged-in reporters only Newswise Bethesda, MD, February 20, 2015: The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular laboratory professionals today presented at the U.S. Food and Drug Administration public workshop, Optimizing FDAs Regulatory Oversight of Next Generation Sequencing Diagnostic Tests, outlining specific ways that FDA could best facilitate innovation of precision medicine. The purpose of the workshop is to discuss and receive feedback from the community on FDAs regulatory approach to diagnostic tests for human genetics or genomics using NGS technology. A number of AMP members participated in the workshop today, including Roger D. Klein, MD, JD, Chair, AMP Professional Relations Committee who presented recommendations for FDAs role in assuring safe and effective NGS diagnostic tests. Our members are among the early adopters and users of next-generation sequencing (NGS) in a clinical setting, and have accumulated substantial knowledge and expertise as it relates to this novel and powerful technology, said Dr. Klein. On behalf of the many medical professionals who design, develop, perform, interpret, and communicate the results of clinical implications of these valuable diagnostic processes, we urge the FDA to consult with NGS experts and professional organizations in constructions of … Continue reading →

Jenny Taylor: Personalised Medicine Dr Jenny Taylor is the Programme Director for the Genomic Medicine Theme at the Wellcome Trust Centre for Human Genetics. Her research aims to bridge the gap... By: OxfordNDM - Nuffield Department of Medicine … Continue reading →

Image via shutterstock.com When a Jewish couple is planning their wedding or anticipating starting a family, they probably arent thinking much about rare genetic conditions. But JScreen, an educational and screening program, urges couples to add genetic testing to their to-do list. And by offering home-based testing, JScreen hopes to eliminate any obstacles to this process. Based at Emory Universitys Department of Human Genetics, JScreen (jscreen.org) provides a Web-based portal for individuals to request a genetic-screening kit. Participants provide a saliva sample most genetic tests involve a blood draw and mail it back for analysis. Before receiving the kit, participants must view an educational video and enter health information that is reviewed by an Emory genetic counselor. We all carry [recessive genes for] various genetic diseases. We just dont know what they are, said Karen Grinzaid, a genetic counselor and instructor at Emory University School of Medicine and the senior director of outreach initiatives for JScreen. The problem occurs when both parents are carriers of the same disease. In that case, each of their offspring has a 25 percent chance of manifesting the condition. According to Emorys Department of Human Genetics, about one in five Ashkenazi Jews in the U.S. … Continue reading →