Genetic Disorders News

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Ehlers-Danlos Syndrome: A Primer on 'Hyper-Flexibility' Illness

(Aug. 3) -- Ehlers-Danlos syndrome is an extremely rare illness, ranging in severity from mild nuisance to life-threatening. For those afflicted, symptoms can include ultra-flexible joints and deadly ruptured organs. And the syndrome is in the news this week after reports of a 3-year-old British girl, Olivia Court, who is...

Genetic Mystery: Black Brits Birth White, Blue-Eyed Baby

LONDON (July 20) -- Britain's tabloid press has gone gaga over a baby girl with white skin, blue eyes and a mop of blond curls who was born to black parents. The best-selling Daily Mail and The Sun newspapers have labeled the child's Caucasian complexion a mystery, saying genetics experts are "flummoxed" by the case. But...

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Genetic Disorders News From the Web

05/29/12 Mike Lux: Kevin's Gift Source: MEDIAWEEK At my father's funeral, the presiding minister, Ebb Munden, was a man who had been one of my dad's closest friends.
05/29/12 Mutations Impair Childhood Development by Disrupting... Source: newswise mednews Philadelphia, May 29, 2012 â Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide.
05/29/12 Oops! Vertex Pharmaceuticals Incorporated Revises... Source: BioSpace CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Vertex Pharmaceuticals Incorporated (VRTX) announced today a correction to the previously reported responder analysis, as well as additional data from, the recent interim analysis of an ongoing Phase 2 study of VX-809 and KALYDECOâ¢ (ivacaftor) that showed significant improvements in lung function (forced expiratory volume in one second, FEV1) among adults with cystic fibrosis (CF) who have two copies (homozygous) of the most common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, F508del.
05/29/12 Cody's Dash for Down Syndrome Raises $22K Source: Hopkins Patch - Hopkins MN Cody's Dash for Down syndrome brought in thousands of dollars for advocacy efforts, according to numbers organizers released Tuesday.
05/29/12 SavOn Stores Raise Money for MDA Source: Madison County Courier - Madison County NY Pictured from left are Sean Brown, SavOn Stores Operations Director; David Balfe, SavOn Stores Operations Manager; Kristin Rogers, MDA of Syracuse Executive Director; and Chuck Fougnier, Wolf Clan Member of the Oneida Nation Council.