Public release date: 4-Oct-2012 [ | E-mail | Share ] Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital BOSTON, MAUterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids. The study will be published online on October 4, 2012 in The American Journal of Human Genetics. The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase). Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found … Continue reading →

The European Union on Thursday set out proposals aimed at thwarting the illegal use of genetic resources and traditional medicine, a practice known as biopiracy. A Europe-wide regulation would create "a level playing field for all users of genetic resources," the European Commission said in a press release that coincided with a UN conference on biodiversity in Hyderabad, India. Developing countries, led by India, are complaining that pharmaceutical and cosmetic firms are using local species of plants and animals in their research or exploiting traditional medicine for their own gain. Confusion on how genetic treasures and knowledge should be shared led in 2010 to the Nagoya Protocol, which members of the UN Convention on Biological Diversity (CBD) have pledged to pass into their national laws. The draft EU regulation would require users to declare they have exercised "due diligence" in meeting the legal requirements in the country of origin and in showing that the benefits are "fairly and equitably shared," the commission said. As part of the initiative, an EU database of "trusted collections" of seed banks and botanical gardens will be set up to inform users about the origins of genetic materials. The proposed measures will be put to … Continue reading →

ScienceDaily (Oct. 4, 2012) Uterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids. The study will be published online on October 4, 2012 in The American Journal of Human Genetics. The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase). Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found in various types of tumors and is thought to be important for tumor cell survival. "Our … Continue reading →

By Elizabeth Landau (CNN) Genome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies. New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU). After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share. We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine thats influenced by genomes, said Stephen Kingsmore, the studys senior author and director for the Center for Pediatric Genomic Medicine at Childrens Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday. There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause … Continue reading →

By Randy Dotinga HealthDay Reporter WEDNESDAY, Oct. 3 (HealthDay News) -- Researchers say they have developed a blood test that could potentially detect hundreds of genetic conditions in newborn babies in about two days. The test might allow physicians to quickly diagnose babies and treat them instead of waiting for lengthy tests or guessing without full information. The test, which uses a drop of a newborn's blood to examine the entire genome, isn't ready for widespread use. A study released Oct. 3 reports only the results of testing that confirmed genetic conditions in three newborns. The test could be available soon, however, said study co-author Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at the Children's Mercy Hospital in Kansas City, Mo. "Genome analysis is moving from being a research tool that holds promise to being something that's ready to ... be used for real medical care in real patients," he said. Newborns routinely undergo genetic screening in the United States to see if they have genetic conditions. The screenings, however, look for about 60 conditions at most, Kingsmore said, and focus on diseases that don't show obvious symptoms at first. There are thousands of other genetic … Continue reading →