Congenital Hearing Loss

marfan chromosome 15 :: Article Creator Gene Causing Marfan Syndrome Discovered Hopkins Scientists Help Find Cause Of Inherited Disorder. - Baltimore Sun Discovery of the Marfan syndrome gene, whose existence was predicted 35 years ago by Dr. Victor A. McKusick, a Johns Hopkins cardiologist, is reported in today's issue of Nature, a British journal. Scientists from Johns Hopkins and the Portland (Ore.) Shriners Hospital have proved that the gene responsible for making a connective tissue protein causes the syndrome, a potentially fatal, inherited disorder affecting one in 10,000 Americans, the journal reports. The tall and long-armed Abraham Lincoln is believed to have had it. Olympic volleyball player Flo Hyman and University of Maryland basketball player Chris Patton died of it when their aortas — the heart's major blood vessel — burst despite apparently excellent health. The finding is expected to have immediate use in early diagn...

rare blood disorders :: Article Creator Only One Person On Earth Has This Blood Type. What Is 'Gwada Negative'? A woman from the French Caribbean territory of Guadeloupe has been confirmed as the only known person in the world to possess a newly classified blood group — now officially recognised as the 48th blood group system. The new blood group has been named "Gwada negative", after a local nickname for the islands of Guadeloupe. The discovery was announced by France's national blood service, Établissement français du sang (EFS), following its formal recognition by the International Society of Blood Transfusion (ISBT) at its congress in Milan. STORY CONTINUES BELOW THIS AD The ISBT had previously identified 47 unique blood group systems. This development comes more than a century after Austrian-American biologist Karl Landsteiner first identified the ABO system in 1901, a milestone that would later earn him a Nob...

genetic diseases examples :: Article Creator Scientists Discover Unknown Structure In Cells, Could Help Treat Thousands A previously unknown structure discovered in our cells could pave the way toward new treatments for various genetic disorders. The existence of the organelle—which has been dubbed the "hemifusome"—was revealed by researchers from the University of Virginia and the National Institutes of Health (NIH). The hemifusome, the team reports, is like a "recycling center" in which the cells sort, discard and recycle important cargo. Disruptions to these housekeeping functions underlie many inherited conditions. Understanding how this happens, the researchers say, could help treat these disorders. One such example is Hermansky-Pudlak syndrome, which the NIH estimates may affect up to 200,000 people in the U.S.; the disorder causes symptoms including albinism, blood-clotting issues, lung disease and vision problems....

not clotting :: Article Creator What Causes Blood Clots? - USA TODAY Your browser is not supportedusatoday.Com usatoday.Com wants to ensure the best experience for all of our readers, so we built our site to take advantage of the latest technology, making it faster and easier to use. Unfortunately, your browser is not supported. Please download one of these browsers for the best experience on usatoday.Com Blood Clots Are Silent Killers Hiding In Your Legs Every year, millions of people develop dangerous blood clots in their legs without realizing the life-threatening risk growing within their bodies. These formations, medically known as deep vein thrombosis, represent one of the most underestimated health dangers of modern life. What makes them particularly insidious is their ability to develop silently, often without obvious symptoms, until they break free and travel to vital organs with potentially fatal consequences. Deep vein thromb...