Q: When is a Jew, not a Jew? A: When he is Jewish, according to the latest Genetic DNA research carried out by Dr. Eran Elhaik''a Jew" and associates at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins... By: TheWatchman144K … Continue reading →

Seventy medical, research and advocacy organizations active in 41 countries and including the National Institutes of Health announced Wednesday that they have agreed to create an organized way to share genetic and clinical information. Their aim is to put the vast and growing trove of data on genetic variations and health into databases -- with the consent of the study subjects -- that would be open to researchers and doctors all over the world, not just to those who created them. Millions more people are expected to get their genes decoded in coming years, and the fear is that this avalanche of genetic and clinical data about people and how they respond to treatments will be hopelessly fragmented and impede the advance of medical science. This ambitious effort hopes to standardize the data and make them widely available. "We are strong supporters of this global alliance," said Dr. Francis Collins, director of the National Institutes of Health. "There is lots of momentum now, and we really do want to move quickly." David Haussler, professor of biomolecular engineering and director of the Center for Biomolecular Science and Engineering at UC Santa Cruz, is a member of the alliance's organizing committee. He … Continue reading →

Public release date: 5-Jun-2013 [ | E-mail | Share ] Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital Boston, MA Reaching puberty at an unusually early age can have adverse effects on social behavior and psychological development, as well as physical effects, including short stature, and lifelong health risks, such as diabetes, breast cancer and heart disease. Researchers at Brigham and Women's Hospital (BWH), in a multi-institutional collaboration with Boston Children's Hospital, the Broad Institute, and the University of Sao Paulo, Brazil, have identified that a genetic mutation leads to a type of premature puberty, known as central precocious puberty. Central precocious puberty is defined by the development of secondary sexual characteristics before eight years in girls and nine years in boys. The study appears online June 5, 2013 in The New England Journal of Medicine. The results will also be presented at The Endocrine Society's 95th Annual Meeting & Expo in San Francisco on June 17, 2013. "These findings will open the door for a new understanding of what controls the timing of puberty," said Ursula Kaiser, MD, chief of the BWH Division of Endocrinology, Diabetes and Hypertension, co-senior study author. "It also will allow doctors to diagnose … Continue reading →

Public release date: 5-Jun-2013 [ | E-mail | Share ] Contact: Garth Sundem garth.sundem@ucdenver.edu University of Colorado Denver A recent article in the New England Journal of Medicine describes genetic testing of a rare blood cancer called atypical chronic neutrophilic leukemia (CNL) that revealed a new mutation present in most patients with the disease. The mutation also serves as an Achilles heel, allowing doctors at the University of Colorado Cancer Center to prescribe a never-before-used, targeted treatment. The first patient treated describes his best snowboarding season ever. "I'm a crazy sports fan," says the patient. "I go 30 days a season. I may be the oldest guy snowboarding on the mountain, but I'm not the slowest!" When he lost a few pounds from what eventually proved to be undiagnosed cancer, the patient was initially pleased. "I was lighter and could snowboard better ride better, jump better," he says. Then he took a blood test and his white blood cell count was far in excess of the normal range. His doctor couldn't find a cause and so they watched and waited. A couple months later, another blood test showed his white count was even higher. "That's when I decided to go … Continue reading →

Newswise BIRMINGHAM, Ala. A newfound genetic marker promises to better predict warfarin dose in African-Americans, according to a study published online today in The Lancet. If confirmed in further studies, the finding may help to avert more of the bleeds and blood clots that come when a patients starting dose misses the drugs narrow safety window. First approved for use in 1954, the blood thinner warfarin effectively prevents clots but must be dosed carefully. A too-high starting dose can cause internal bleeding, while an insufficient dose may fail to protect against clots. In a hint at the promise of pharmacogenomics, inexpensive, 59-year-old warfarin may become more valuable each time a newly identified genetic marker makes more accurate algorithms used to predict dose for each patient. As it stands, most physicians start patients on a standard five-milligram dose, closely monitor their clotting speed and adjust their dose based on it. The effort to reach a safe dose is complicated by the 20-fold variability in dose requirements observed in African Americans. The best available dosing models miss their mark often enough that warfarin causes a third of U.S. hospital visits related to drug side effects in patients aged 65 and older, with … Continue reading →