Study Reveals Genetic Clues about Lou Gehrig's Disease

Discovery opens a new avenue for ALS research

PHOENIX, AZ, August 1, 2007 -- 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 today's 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 1,500 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. Blood donated for the study came from the MDA/ALS Center at Methodist Neurological Institute in Houston, the Forbes Norris MDA/ALS Center at California Pacific Medical Center in San Francisco, the MDA/ALS Center at the University of Pittsburgh, and the Eleanor and Lou Gehrig MDA/ALS Center at Columbia University in New York, as well as a dozen other collection sites comprising the Western ALS Study Group (WALS) throughout the United States.

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About TGen
TGen is a nonprofit 501(c)(3) organization focused on developing earlier diagnoses and smarter treatments. Translational genomics research is a relatively new field employing innovative advances arising from the Human Genome Project and applying them to the development of diagnostics, prognostics and therapies for cancer, neurological disorders, diabetes and other complex diseases. TGen's research is based on personalized medicine. The institute plans to accomplish its goals through robust and disease-focused research.

About MDA
MDA ( is a voluntary health agency working to defeat more than 40 neuromuscular diseases through programs of worldwide research, comprehensive services and far-reaching professional and public health education. It operates 235 neuromuscular disease clinics, of which 37 are ALS-specific research and care centers, across the United States. In 2006, MDA allocated some $7 million to ALS research and another $10 million for ALS health care services. Since its inception, the Association's expenditures for ALS research and services have exceeded $190 million.

About Augie's Quest
Fitness pioneer Augie Nieto started Augie's Quest ( in conjunction with MDA's ALS Division. Nieto is co-founder and former president of Life Fitness, and chairman of Octane Fitness. He and his wife, Lynne, serve as co-chairpersons of MDA's ALS Division. Nieto received a diagnosis of ALS in March 2005.

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Amy Erickson
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