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Study Reveals Genetic Clues about Lou Gehrig’s Disease

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A comprehensive scan of the human genome by researchers at the Translational Genomics Research Institute (TGen) has identified more than 50 genetic abnormalities in people with sporadic amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease), according to a study published in online issue of the New England Journal of Medicine.

The identified differences implicate genes that are likely to play a role in nerve function, offering a new avenue for ALS therapy development.

ALS is a progressive neurological disorder that leads to paralysis and death in three to five years. It has baffled researchers for nearly 140 years.

After screening DNA samples from over 1,250 people with and over 2,000 people without sporadic ALS, TGen researchers identified genes that are involved in maintaining motor neuron connections at the nerve-muscle junction, and allowing normal voluntary movement.

Dr. Dietrich Stephan, Director of TGen’s Neurogenomics Division and the study's principle investigator, has validated the study’s results by analyzing all of the available data in the public domain. Additionally, Dr. Stephan and his research team have refined the biological mechanism that predisposes individuals to ALS in order to move genetic discoveries more quickly to the clinic.

"ALS is a horrific disorder that very quickly leads to complete paralysis," said Dr. Stephan. "This is the first study to find consistent genetic changes that predispose to this disorder, giving researchers new leads for the development of therapeutics."

The study was funded by a $652,000 grant from the Muscular Dystrophy Association’s (MDA) Augie's Quest, a fast-track ALS research program, in collaboration with TGen.