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MDA Funds ALS Exome Sequencing Partnership with NIH

NEW YORK (GenomeWeb News) – The Muscular Dystrophy Association has provided $400,000 to researchers at the National Institutes of Health to fund a collaboration that will generate genomic data for use in research into amyotrophic lateral sclerosis.

The MDA infrastructure grant will support exome sequencing on samples from ALS patients with the sporadic form of the disease, which accounts for 95 percent of ALS cases, as only around 5 percent of the patients have a strong family history of the disease. The project will be led by National Institute on Aging investigator Bryan Traynor, who is head of the NIA Neuromuscular Diseases Research Group.

The sequencing will include samples from 1,000 patients, including post-mortem samples from 360 people with the sporadic form of ALS who have donated tissues to the NIH and 640 more samples from sporadic ALS patients who have donated tissues to the ALS Repository at the Coriell Institute for Medical Research.

These data sets will be made publicly available online, enabling the research community to access and use them in their own studies, and they will be compared against exome sequencing data from a large number of people who have not been affected by ALS.

MDA expects that researchers will correlate this new genomic information with the tissue samples to identify genes that can cause ALS when they are mutated and combinations of genes that can either lead to heightened ALS risk or which can affect the course of the disease.

The hope is that the discoveries of such genes might enable researchers to develop diagnostic tests for earlier or more precise disease diagnosis, or to develop targets for possible treatments.