Category Archives: Human Genetics

PUBLIC RELEASE DATE: 28-Aug-2014 Contact: Kelly Husser khusser@faseb.org 301-634-7109 Federation of American Societies for Experimental Biology Bethesda, MD FASEB MARC (Maximizing Access to Research Careers) Program has announced the travel award recipients for the American Society of Human Genetics from October 18 22, 2014 in San Diego, California. These awards are meant to promote the entry of students, post doctorates and scientists from underrepresented groups into the mainstream of the basic science community and to encourage the participation of young scientists at the American Society of Human Genetics. This year MARC conferred 16 awards totaling $29,600. The FASEB MARC Program is funded by a grant from the National Institute of General Medical Sciences, National Institutes of Health. A primary goal of the MARC Program is to increase the number and competitiveness of underrepresented groups engaged in biomedical and behavioral research. The following participants have been selected to receive a FASEB MARC Travel Award: POSTER/ORAL PRESENTER (FASEB MARC PROGRAM) FACULTY/MENTOR & STUDENT/MENTEE (FASEB MARC PROGRAM) ### FASEB is composed of 27 societies with more than 120,000 members, making it the largest coalition of biomedical research associations in the United States. Our mission is to advance health and welfare by promoting progress … Continue reading →

Yorba Linda, CA (PRWEB) August 19, 2014 BioConference Live Genetics and Genomics recently announced new speakers for their virtual conference scheduled for August 20-21, 2014. The Annual Genetics and Genomics Virtual Conference welcomes Dr. Gordon Mills and Dr. Robert Nussbaum as the keynote speakers during the event. The one-of-a-kind global web-based conference will be conducted through live video webcasts and real-time networking. Dr. Mills will be presenting Delivering on the promise of personalized medicine. The realization of the promise of personalized molecular medicine requires efficient development and implementation of novel targeted therapeutics linked to molecular markers able to identify patients most likely to benefit. An efficient integration of DNA, RNA and protein information content will be needed to identify patients likely to respond to particular therapies. A comprehensive analysis of patient tumors before, during and after treatment should become the standard of practice. Testing these precepts will require the development and implementation of novel trial designs. Keynote presenter Dr. Nussbaum will discuss the Clinical Validity and Utility in Whole Exome/Genome Sequencing. He is a member of the UCSF Institute for Human Genetics, where he is studying if and how genetic and genomic information can be used to improve health care … Continue reading →

Contact Information Available for logged-in reporters only Newswise PHILADELPHIA Twenty years after the first identification of the BRCA1 gene, the University of Pennsylvanias Basser Research Center for BRCA will honor the geneticist credited with its founding with the second annual Basser Global Prize. The award will go to human genetics researchers and expert Mary-Claire King, PhD, American Cancer Society Research Professor of Genetics and Medicine at the University of Washington. King has been a pioneer in the development of experimental and bioinformatics genomics tools to study common, complex human diseases and health conditions. The Basser Global Prize provides $200,000 in unrestricted support of the winner's innovative BRCA1/2 related research efforts. As part of the award, King will give the keynote address at the annual Basser Research Center for BRCA Symposium scheduled for May 11-12, 2015, at which time she will receive the Basser Trophy and a personal $10,000 cash prize. Were very excited to honor Dr. Kings accomplishments in BRCA-related research, particularly as this year marks twenty years since the initial cloning of the BRCA1 gene, said Susan Domchek, MD, executive director of the Basser Research Center and the Basser Professor of Medicine in Penns Abramson Cancer Center. The identification … Continue reading →

Released: 12-Aug-2014 9:00 AM EDT Source Newsroom: 23andMe Contact Information Available for logged-in reporters only Newswise Mountain View, Calif. August 12, 2014 23andMe, the leading personal genetics company today announced an agreement with Pfizer Inc. in which the companies will aim to enroll 10,000 people with Inflammatory Bowel Disease (IBD) in a research initiative designed to explore the genetic factors associated with the onset, progression, severity and response to treatments for IBD. Approximately 1.4 million people in the U.S. alone suffer from IBD, according to estimates from the Centers for Disease Control and Prevention (CDC). While IBD is known to be more common in developed countries, the exact cause of this chronic illness is still unknown and there is no cure. The collaboration represents an innovative effort for both companies designed to explore the underlying genetics of IBD and it is hoped that the effort will ultimately lead to potential new or improved treatments for IBD. We are excited to team up with Pfizer to take an innovative, consumer-centered approach to try to understand the fundamentals of inflammatory bowel disease and the variability of treatment response, said 23andMe CEO and Co-Founder Anne Wojcicki. Pfizer is committed to bringing forward new … Continue reading →

Stanford University Medical Center For the first time, the tiny fruit fly can be used to study how mutations associated with the development of diabetes affect the production and secretion of the vital hormone insulin. The advance is due to a new technique devised by researchers at the Stanford University School of Medicine that allows scientists to measure insulin levels in the insects with extremely high sensitivity and reproducibility. The experimental model is likely to transform the field of diabetes research by bringing the staggering power of fruit fly genetics, honed over 100 years of research, to bear on the devastating condition that affects millions of Americans. Until now, scientists wishing to study the effect of specific mutations on insulin had to rely on the laborious, lengthy and expensive genetic engineering of laboratory mice or other mammals. In contrast, tiny, short-lived fruit flies can be bred in dizzying combinations by the tens of thousands in just days or weeks in small flasks on a laboratory bench. I normally avoid the term, but I think Dr. Parks new technique is a true breakthrough, said Seung Kim, MD, PhD, professor of developmental biology. Only in selected mammals can researchers measure insulin with … Continue reading →

Legends of mysterious part-human creatures have circulated for centuries, and those stories persist today in cultures around the world, from Yeti in the Himalayas to the Almas, or wild man, in Central Asia to Sasquatch, aka Bigfoot, in North America. Now a research team has performed the first rigorous genetic analysis of three dozen hair samples that their collectors claimed came from such undiscovered, living humanoids. Like everyone else, I was curious to know what was at the bottom of all of the rumors and myths, said Bryan Sykes, a professor of human genetics at the University of Oxford, who led the study. The samples, it turned out, belonged to a range of creatures: raccoons, sheep, bears, dogs, humans and more. Bigfoot, however, was not one of them. Sykes and his colleagues acquired 57 hair samples from museums and collectors in the Himalayas, Russia, the United States and Indonesia. After excluding two non-hair samples, the team selected 36 of the remaining ones for analysis. They thoroughly cleaned the hairs using forensic techniques and then sequenced mitochondrial DNA recovered from the hair shafts. Thirty of the samples yielded genetic material, which they compared with listings in a genetic database of known … Continue reading →

Human Genetics and the Image of God Public lecture given by Dr Graeme Finlay Dr Graeme Finlay 7 November 2006. By: Brian Ribbits … Continue reading →

PUBLIC RELEASE DATE: 31-Jul-2014 Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine HOUSTON (July 31, 2014) Scientists have long speculated that mosaicism a biological phenomenon, in which cells within the same person have a different genetic makeup plays a bigger role in the transmission of rare disease mutations than is currently known. A study conducted by an international team of scientists led by Baylor College of Medicine sheds new light on the frequency of mosaicism in genomic disorders and its influence on recurrence risk. The study, which was published today in the American Journal of Human Genetics, also included scientists from the University of Leuven in Belgium, St. George's Healthcare Trust in London, Radbound University Medical Center in Nijmegen, Netherlands, the Institute of Mother and Child in Warsaw, Poland, and Trinity University in San Antonio, Texas. One human, multiple genomes With recent advances in genome technology, it is becoming increasingly apparent that a human individual is made up of a population of cells, each with its own "personal genome," said Dr. James Lupski, the Cullen Professor of Molecular and Human Genetics at Baylor, and a senior and corresponding author on the report. "Before this study, we understood very little … Continue reading →

PUBLIC RELEASE DATE: 29-Jul-2014 Contact: Christopher Hardwick chardwick@som.umaryland.edu 410-706-5260 University of Maryland School of Medicine The University of Maryland Schools of Dentistry (UM SOD) and Medicine (UM SOM) jointly announced today that they have received a five-year $10.7 million grant award from the National Institute of Allergy and Infectious Diseases (NIAID) of the National Institutes of Health to study the causes, prevention and treatment of sexually-transmitted diseases (STDs). The grant, which renews a previous $12 million five-year NIAID-funded research program, represents a new direction for the research by studying chlamydial and gonorrheal diseases as the outcome of complex interactions between the host genetics, the urogenital polymicrobial microbiome, and the pathogen's unique genetics. By applying modern "omics" technology, the study aims at identifying novel molecular "biomarkers" of susceptibility to sexually transmitted infections (STIs), ensuing disease severity, and conversely protection from STIs and STDs. Biomarkers can be measured in the body (or its products) as a means to predict and potentially influence pathways related to disease. They may reveal mechanisms of infection or disease that can be exploited as therapeutic or diagnostic targets. The long-term goal of the research is to develop strategies and the means to reduce the incidence of STIs … Continue reading →

Factoring in Mendel and Human Genetics This episode shows the discovery of Mendel of the Mendelaina Ratio, the first and second hybrid generation. It also explains that the gene, the factor in Men... By: knowledgechannelorg … Continue reading →