- Posted Thursday November 30, 2006
TUCSON, Ariz., Nov. 30, 2006 -- A comprehensive scan of the human genome has identified more than 50 genetic abnormalities in people with sporadic amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease), the Muscular Dystrophy Association (MDA) and the Translational Genomics Research Institute (TGEN) announced today. The most common of these abnormalities have never before been shown to play a role in the disease.
TGen researchers, announcing the findings at an international ALS conference in Japan, said the identified differences implicate genes likely to play a role in cell function that controls nerve adhesion, offering a major new avenue for ALS research. TGen researchers identified the differences by screening DNA samples from over 1,200 people with and 2,000 people without sporadic ALS using state-of-the-art microarray technology by Affymetrix of Santa Clara, Calif.
"Our findings indicate these genes produce a sort of molecular glue that attaches motor neurons to muscle. It appears that in ALS the nerve is able to peel off the muscle and, when that happens repeatedly, the nerves die," said Dietrich Stephan, TGen director of Neurogenomics and the study's principle investigator.
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.
What is extraordinary about this study is how quickly this breakthrough occurred. A new fast-track research funding approach used by MDA and a new microarray technology by Affymetrix that lets researchers quickly scan people's genomes enabled the experiment to be completed in just nine months.
"There is a revolution going on in research, and this study is a perfect example of how things are changing," said Sharon Hesterlee, MDA vice president of translational research. "New technology is letting us look at the genome at a level of detail that was unthinkable just a few years ago and, as a result, costs are coming down, results are coming much faster and we're seeing breakthroughs in diseases that have baffled researchers for decades."
The Affymetrix 500K Arrays identified the genetic differences between the affected and unaffected groups and rapidly produced a genetic map of each individual.
"Just a couple of years ago, this experiment would not have been possible because there simply wasn't a technology that enabled scientists to sift through the three billion molecules in the genome to find the genetic abnormalities that cause disease," said Sean George, vice president Academic Business Unit at Affymetrix. "The 500K microarray used on this experiment employs the same kind of semi-conductor technology that powers super computers."
According to MDA and TGen, the next steps center around high-throughput screening for drugs that act on the biochemical pathways identified by the DNA screen.
The massive project was funded by a $652,000 grant from MDA's 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 throughout the United States.
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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.
About the TGen
TGen is a nonprofit 501(c)(3) organization focused on developing earlier diagnostics 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 Affymetrix Inc.
Affymetrix Inc. (Nasdaq:AFFX) scientists invented the world's first high-density microarray in 1989 and began selling the first commercial microarray in 1994. The microarray technology is used by the world's top pharmaceutical, diagnostic and biotechnology companies, as well as leading academic, government and nonprofit research institutes. More information about Affymetrix can be found at www.affymetrix.com.