ALS Association Bring Whole Genome Sequencing to Postmortem Tissue Analysis
News Sep 25, 2015
Funding from The ALS Association and the Tow Foundation will be used by The New York Genome Center to determine the entire genetic sequence of people with ALS who have elected to donate their tissues after death to the Target ALS Postmortem Tissue Core at Barrow Neurological Institute/Saint Joseph's Hospital in Phoenix, Columbia University in New York, Georgetown University in Washington D.C., Johns Hopkins University in Baltimore and University of California at San Diego.
ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis. For unknown reasons, veterans are twice as likely to develop ALS as the general population. There is no cure, and only one drug approved by the U.S. Food and Drug Administration (FDA) modestly extends survival.
The Target ALS Postmortem Tissue Core is a unique resource in the field of ALS research, providing high-quality post-mortem tissue for academic and industry researchers throughout the world. The addition of whole genome sequencing to the clinical and pathological data collected on each individual will greatly expand the utility of this resource, providing researchers the ability to explore connections between genes, disease course, and tissue changes.
The New York Genome Center is a world leader in whole genome sequencing for ALS and other diseases. Through its Consortium for Genomics of Neurodegenerative Disease, the Center harnesses state-of-the-art genetic, genomic, and bioinformatics tools to gain insights into motor neuron disease mechanisms, and uses this knowledge to identify new diagnostic and therapeutic approaches to these devastating diseases. The ALS Association and its Greater New York Chapter committed an initial $2.5 million dollars towards a dedicated ALS program at the center. These funds matched a $2.5 million gift from The Tow Foundation in support of this initiative.
"We are very pleased to be able to combine whole genome sequencing with post-mortem tissue banking," said Association Chief Scientist Lucie Bruijn, Ph.D., M.B.A. "This will give researchers the ability to ask and answer important questions that link gene-based mechanisms to their effects on tissues in people with ALS. This kind of inquiry is needed to develop effective therapies against the disease."
'We are delighted that this collaboration will enable researchers' access to whole genome sequencing data from well-characterized human postmortem tissue," said Target ALS Executive Director, Manish Raisinghani, M.D., Ph.D. "The ability to query ALS biology in human-based systems is critical to identify and validate new therapeutic targets for the treatment of this disease."