Category Archives: Human Genetics

PUBLIC RELEASE DATE: 9-Oct-2014 Contact: Mary Beth O'Leary moleary@cell.com 617-397-2802 Cell Press @CellPressNews Neurodevelopmental disorders such as Down syndrome and autism-spectrum disorder can have profound, lifelong effects on learning and memory, but relatively little is known about the molecular pathways affected by these diseases. A study published by Cell Press October 9th in the American Journal of Human Genetics shows that neurodevelopmental disorders caused by distinct genetic mutations produce similar molecular effects in cells, suggesting that a one-size-fits-all therapeutic approach could be effective for conditions ranging from seizures to attention-deficit hyperactivity disorder. "Neurodevelopmental disorders are rare, meaning trying to treat them is not efficient," says senior study author Carl Ernst of McGill University. "Once we fully define the major common pathways involved, targeting these pathways for treatment becomes a viable option that can affect the largest number of people." A large fraction of neurodevelopmental disorders are associated with variation in specific genes, but the genetic factors responsible for these diseases are very complex. For example, whereas common variants in the same gene have been associated with two or more different disorders, mutations in many different genes can lead to similar diseases. As a result, it has not been clear whether … Continue reading →

To reduce false positives when identifying genetic variations associated with human disease through genome-wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014. Reproducibility rates of SNPs based solely on P values is low. Dartmouth authors' analysis of GWAS studies published in Human Genetics showed a 1-5 percent replication rate. "It is important to improve our ability to select SNPs for validation using a formalized process. In this paper, we propose a combination of traits that improve replication success," said first author Ivan P. Gorlov, PhD, DSC, associate professor of Community and Family Medicine, Geisel School of Medicine at Dartmouth. The team assigned a value of zero or one to nine different predictors. To compute the Replication Score (RS), one totals the individual scores for all significant predictors. The predictors include "Online Mendelian Inheritance in Man" (OMIM, a list of genetically caused diseases), receptors, kinases, growth factors, transcription factors, tissue specific, plasma membrane localization, nuclear localization and conversation index. The authors provided detailed information to construct the RS in supplementary material to the paper. An RS score … Continue reading →

Contact Information Available for logged-in reporters only Newswise The Gordon and Betty Moore Foundation today announced the University of Chicagos Matthew Stephens as the recipient of a Moore Investigator in Data-Driven Discovery award. Stephens, a professor in statistics and human genetics, is among 14 scientists from academic institutions nationwide who will receive a total of $21 million over five years to catalyze new data-driven scientific discoveries. Stephens grant is for $1.5 million. These Moore Investigator Awards are part of a $60 million, five-year Data-Driven Discovery Initiative within the Gordon and Betty Moores Science Program. The initiativeone of the largest privately funded data scientist programs of its kindis committed to enabling new types of scientific breakthroughs by supporting interdisciplinary, data-driven researchers. Science is generating data at unprecedented volume, variety and velocity, but many areas of science dont reward the kind of expertise needed to capitalize on this explosion of information, said Chris Mentzel, program director of the Data-Driven Discovery Initiative. We are proud to recognize these outstanding scientists, and we hope these awards will help cultivate a new type of researcher and accelerate the use of interdisciplinary, data-driven science in academia. Stephens is a data scientist who develops statistical and computational … Continue reading →

Contact Information Available for logged-in reporters only Newswise To reduce false positives when identifying genetic variations associated with human disease through genome-wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014. Reproducibility rates of SNPs based solely on P values is low. Dartmouth authors analysis of GWAS studies published in Nature Genetics showed a 1-5 percent replication rate. It is important to improve our ability to select SNPs for validation using a formalized process. In this paper, we propose a combination of traits that improve replication success, said first author Ivan P. Gorlov, PhD, DSC, associate professor of Community and Family Medicine, Geisel School of Medicine at Dartmouth. The team assigned a value of zero or one to nine different predictors. To compute the Replication Score (RS), one totals the individual scores for all significant predictors. The predictors include Online Mendelian Inheritance in Man (OMIM, a list of genetically caused diseases), receptors, kinases, growth factors, transcription factors, tissue specific, plasma membrane localization, nuclear localization and conversation index. The authors provided detailed information to construct the RS in … Continue reading →

PUBLIC RELEASE DATE: 8-Oct-2014 Contact: Robin Dutcher robin.Dutcher@hitchcock.org 603-653-9056 The Geisel School of Medicine at Dartmouth Lebanon, NH, 10/8/14 To reduce false positives when identifying genetic variations associated with human disease through genome-wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014. Reproducibility rates of SNPs based solely on P values is low. Dartmouth authors' analysis of GWAS studies published in Nature Genetics showed a 1-5 percent replication rate. "It is important to improve our ability to select SNPs for validation using a formalized process. In this paper, we propose a combination of traits that improve replication success," said first author Ivan P. Gorlov, PhD, DSC, associate professor of Community and Family Medicine, Geisel School of Medicine at Dartmouth. The team assigned a value of zero or one to nine different predictors. To compute the Replication Score (RS), one totals the individual scores for all significant predictors. The predictors include "Online Mendelian Inheritance in Man" (OMIM, a list of genetically caused diseases), receptors, kinases, growth factors, transcription factors, tissue specific, plasma membrane localization, nuclear localization and conversation … Continue reading →

Icelanders love keeping track of how they're related, which has made them "the world champions of human genetics. A commercial for an Icelandic phone company from a few years ago depicted a couple waking up after a one-night stand. They both pick up their smart phones. They both log into a family-tree website, Islendingabok. And thats where things get awkward. There are only 320,000 people who live in Iceland, and most are descended from a small clan of Celtic and Viking settlers. Thus, many Icelanders are distant (or close) relatives. Sometimes too close. The desire to avoid unwitting incestuous pairings at one point even spawned an app, created by a group of engineering students at the University of Iceland, that allows its users to bump their phones together to determine whether they share a common ancestor. (Tag line: Bump in the app before you bump in bed.") Concerns about wading into the shallow end of the gene pool are just a small part of the Icelandic obsession with genealogy. As Iva Skoch explained in Global Post, when two Icelanders meet, the first question is usually, "Hverra manna ert bu?" (Who are your people?) Bookstores are stocked with thick volumes on … Continue reading →

Human genetics of malaria has uncovered some new clues about susceptibility to severe malaria Human genetics of malaria has uncovered some new clues about susceptibility to severe malaria. Subscribe this channel to watch more motivational, inspiration... By: Health, Mind, Body, Spirit … Continue reading →

Santa Rosa, California (PRWEB) October 01, 2014 ATIV Software today released the ASHG 2014 mobile event app, built on the dynamic EventPilot platform, for leading scientists and members of the American Society of Human Genetics around the world. The EventPilot conference app, specialized in large scientific and medical meetings, allows attendees to view thousands of abstracts as well as share insights and opinions with peers. Learn more at http://ativsoftware.com. EventPilot makes navigating our complex scientific program easy - you can even perform Boolean search through all of our abstracts offline, said Yimang Chen, Director of IT at the American Society of Human Genetics. The specialized features in EventPilot greatly enhance the attendee experience and bring value to scientific meetings like ours. EventPilot scientific conference apps support large and complex programs while allowing users to seamlessly navigate content through clean design and intuitive UI. Robust search capabilities let users pinpoint sessions and research abstracts in seconds while multi-select filters help locate key information quickly and easily. Meeting planners can increase attendee engagement where users share insights and exchange opinions in context of the session. Attendee-to-attendee messaging provides a safe venue for direct interaction without releasing personal contact details, and allows for … Continue reading →

Released: 30-Sep-2014 9:00 AM EDT Embargo expired: 1-Oct-2014 6:30 AM EDT Source Newsroom: Duke Medicine Contact Information Available for logged-in reporters only Newswise DURHAM, N.C. A new genetic finding from Duke Medicine suggests that some people who are prone to hostility, anxiety and depression might also be hard-wired to gain weight when exposed to chronic stress, leading to diabetes and heart disease. An estimated 13 percent of people, all of whom are Caucasian, might carry the genetic susceptibility, and knowing this could help them reduce heart disease with simple interventions such as a healthy diet, exercise and stress management. Genetic susceptibility, psychosocial stress and metabolic factors act in combination to increase the risk of cardiovascular disease, said Elizabeth Hauser, Ph.D. director of Computational Biology at the Duke Molecular Physiology Institute. Hauser is senior author of a study detailing the findings in the Oct. 1, 2014, online issue of the European Journal of Human Genetics. Hauser and colleagues analyzed genome-wide association data from nearly 6,000 people enrolled in the Multi-Ethnic Study of Atherosclerosis (MESA). The MESA study began in 2000 to better understand how heart disease starts, compiling the participants genetic makeup as well as physical traits such as hip circumference, … Continue reading →

PUBLIC RELEASE DATE: 30-Sep-2014 Contact: Cody Mooneyhan cmooneyhan@faseb.org 301-634-7104 Federation of American Societies for Experimental Biology @fasebopa Having trouble getting pregnanteven with IVF? Here's some hope: A new research report published in October 2014 issue of The FASEB Journal, explains how scientists developed a synthetic version of a sperm-originated protein known as PAWP, which induced embryo development in human and mouse eggs similar to the natural triggering of embryo development by the sperm cell during fertilization. "We believe that the results of this study represent a major paradigm shift in our understanding of human fertilization by providing a precise answer to a fundamental unresolved scientific question in developmental biology," said Mahmoud Aarabi, M.D., Ph.D., a researcher involved in the work from the Department of Human Genetics at Montreal Children's Hospital Research Institute in Montreal, Canada. "Based on our findings, we envision that physicians will be able to improve their diagnosis and treatment of infertility, a problem that affects 10-15 percent of couples worldwide, and scientists will be able to finally resolve the signalling pathway leading to initiation of embryonic development in mammals." To make their advance, Aarabi and colleagues injected transcripts coding for PAWP protein into human eggs, and the … Continue reading →