Study Reveals Genetic Clues about Lou Gehrig's Disease


Discovery opens a new avenue for ALS research

08-01-2007

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
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. 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 (www.mda.org) 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
(www.augiesquest.org) 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.