By GINA KOLATA Published: August 19, 2010 The human genome is riddled with dead genes, fossils of a sort, dating back hundreds of thousands of years — the genome’s equivalent of an attic full of broken and useless junk. Some of those genes, surprised geneticists reported Thursday, can rise from the dead like zombies, waking up to cause one of the most common forms of muscular dystrophy. This is the first time, geneticists say, that they have seen a dead gene come back to life and cause a disease. “If we were thinking of a collection of the genome’s greatest hits, this would go on the list,” said Dr. Francis Collins, a human geneticist and director of the National Institutes of Health. The disease, facioscapulohumeral muscular dystrophy, known as FSHD, is one of the most common forms of muscular dystrophy. It was known to be inherited in a simple pattern. But before this paper, published online Thursday in Science by a group of researchers, its cause was poorly understood… Read the entire article here.

By: Tom Valeo Published: September 16, 2010 – Volume 10 – Issue 18 – p 15 Nearly 20 years after the discovery of the mutation, scientists have finally determined how it contributes to a common form of muscular dystrophy known as facioscapulohumeral dystrophy, or FSHD, which occurs in about 1 in 20,000 births. Although questions remain, the discovery, reported online in Science on Aug. 19, points the way toward an effective treatment for FSHD, which produces progressive wasting of muscles in the upper body… Read entire article here.

April 5, 2010 Massapequa Park, New York LIFSHD Foundation Funds Research Project to Find FSHD Gene. Project Headed by Dr. Eli Hatchwell, Director of the Genomics Core Facility and Associate Professor at SUNY Stony Brook Long Island FSHD Foundation announced the funding of a new scientific research project to find the elusive gene that is linked to FSHD (Facioscapulohumeral Muscular Dystrophy). The study, entitled, “Novel Approaches to Finding the FSHD Gene,” will be headed by Dr. Eli Hatchwell, Director of the Genomics Core Facility and Associate Professor at the State University of New York at Stony Brook. Dr. Hatchwell received his medical degree from Cambridge University and his PhD from Oxford University. He has done work with Autism and Congenital Heart disease and is a welcomed attribute to the FSHD field. “We are thrilled that Dr. Hatchwell is eager to embark on FSHD genetic research and embrace the complexities and challenges of the FSHD genetic puzzle,” stated Jennifer Burgess Valentine, Founder/Executive Director of Long Island FSHD Foundation. FSHD patients interested in donating samples for the study are asked to contact … Continue reading →