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Ice Bucket Challenge paying for genome sequencing in ALS patients

By Bryan Goodchild and Jim Fessenden

UMass Medical School Communications

agosto 03, 2015

Money generated by  last year’s Ice Bucket Challenge social media campaign will allow John Landers, PhD, professor of neurology, to bring an international effort to sequence the genomes of at least 15,000 people with ALS to the United States. The $1 million grant from the ALS Association will be used to fund Project MinE, in which Dr. Landers and other researchers will identify all the genes that cause both familial and sporadic ALS, a fatal neurodegenerative disease also known as Lou Gehrig’s disease. 

Genetics contribute, directly or indirectly, to most cases of ALS. Several important genes have been identified, but researchers suspect that many more, much rarer, variants that affect the risk for ALS are awaiting discovery. Conventional gene discovery techniques are limited to genes that can cause ALS all by themselves and display a familial inheritance pattern. Project MinE aims to identify the rare genetic variants that contribute to ALS, Landers said. Sequencing the entire genome of 15,000 people with ALS and comparing them to a control group of 7,500 genomes will allow these rare risk variants to be found much more readily. Once these are in hand, they can become the basis for new understandings of the disease and new therapeutic strategies.

The grant will be used to begin sequencing the genomes of 1,000 Americans with ALS. Sequenced genomes will become part of an international ALS genome database and made available to researchers. In addition, Project MinE researchers will collect tissue samples that can be used for development of stem cell lines, a key tool in ALS research.

Related links on UMassMedNow:
Substantial progress being made in ALS research at UMMS
UMMS ‘at the forefront’ in ALS research, reports Telegram, NECN