TUCSON, Ariz. — The Muscular Dystrophy Association announced today that it has awarded a $400,000 infrastructure grant to National Institutes of Health (NIH) researchers to support exome sequencing on samples taken from 1,000 people with amyotrophic lateral sclerosis (ALS).
Data generated by the project will be made publicly available online and is expected to accelerate the pace of ALS research by helping scientists identify genes associated with the disease. The MDA funding will enhance research conducted by the National Institute on Aging (NIA, part of the NIH) to better understand the genetic basis of neuromuscular disorders. The project will be led by Bryan Traynor, Ph.D., of the NIA Intramural Research Program in Bethesda, Md.
“It’s exciting to fund such an important project that will significantly expand the existing resources available for scientists to use in their ongoing efforts to better understand ALS,” said MDA Vice President of Research Jane Larkindale. “MDA is pleased to be able to collaborate with the NIH on this unique, first-of-its-kind endeavor.”
Exome-sequencing technology decodes stretches of DNA called exons, which contain instructions used in protein synthesis. Although exons make up only about 1.5 percent of the genome, the vast majority of disease-causing mutations occur in these sections. Exome data can be used to identify genes associated with human diseases.
“The whole team is tremendously excited about this project, which will establish a unique resource for the ALS research community aimed at accelerating gene discovery for this devastating disease,” said Traynor, who heads the Neuromuscular Disease Research Unit in the NIA’s Laboratory of Neuroscience. “Understanding the genetics underlying ALS is essential to understanding its onset and progression and in ultimately developing therapies to help patients.”
The exome-sequencing project is expected to be completed within 12 months. In that time, it will produce exome data from post-mortem tissue samples for 360 people with the sporadic form of ALS who have donated tissues to the NIH and for 640 additional tissue samples from sporadic ALS patients who have donated tissues to the Coriell ALS Repository.
Exome-sequencing data from a large number of people unaffected by ALS will be used for comparison in analysis.
MDA’s $400,000 infrastructure grant to support the project was made through the Association’s translational research program. To learn more, read the MDA/ALS Newsmagazine article Unique ALS ‘Exome-Sequencing’ Project Is Focus of New Grant.
Supporting video: What is Exome Sequencing?
Amyotrophic lateral sclerosis (also known as Lou Gehrig’s disease) attacks the nerve cells that control muscles, ultimately resulting in paralysis of all voluntary muscles, including those used for breathing. Only about 5 percent of ALS is familial (where there is a history of ALS in more than one family member) with the other 95 percent occurring sporadically (without any family history of the disease). Average life expectancy for people with the disease is three to five years after diagnosis.
About the NDRU/NIA
The Neuromuscular Disease Research Unit at the National Institute on Aging focuses on dissecting the genetic pathogenesis of neuromuscular and neurodegenerative diseases. Advances in genotyping and sequencing technology have ushered in the era of genomics, and the Unit has applied these powerful techniques to identify causative genetic factors underlying neuromuscular disorders, especially ALS.
MDA is the nonprofit health agency dedicated to finding treatments and a cure for ALS and related muscle diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.
Over the years, MDA has led the fight against ALS, investing more than $307 million in its ALS research, services and information programs. MDA currently funds more than 250 research projects worldwide. It also operates 200 clinics across the county, 42 of which are designated as ALS-specific research and care centers.
MDA established the MDA ALS Clinical Research Network to streamline and support tests of experimental treatments, with locations at Methodist Hospital (Houston), Massachusetts General Hospital (Boston), Columbia University (New York City), Emory University (Atlanta) and California Pacific Medical Center (San Francisco).
The Association’s unparalleled research, health care services, advocacy and education programs provide help and hope to more than 1 million Americans affected by ALS and the more than 40 other progressive neuromuscular diseases in MDA’s program. MDA also facilitates hundreds of support groups for families affected by neuromuscular diseases.