Editorial: UMass Medical School’s ALS success

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Two summers ago, celebrities, politicians and legions of social-media users were pouring ice over their heads. It was a fun, strange fundraising campaign for science that began in Boston and New York and took off like wildfire.

Under the guidance of a University of Massachusetts Medical School scientist, some of the money raised has hit pay dirt.

The Ice Bucket Challenge was for a serious cause: combating amyotrophic lateral sclerosis, or ALS.

UMass Medical School

Wikimedia Commons/Photo by og-emmet

UMass Medical School

The global campaign of 2014 raised about $115 million in eight weeks for the Washington-based ALS Association. About $1 million of the Ice Bucket money went to a project co-directed by neurology professor John Landers at UMass Memorial Medical Center in Worcester, and Jan Veldink at University Medical Center Utrecht in The Netherlands.

That international project UMass co-directed — the first Americans to be part of it — is known as Project MinE. The name is meant to suggest the concept of mining, because the collaboration has been mapping the genomes of thousands of afflicted and unafflicted people, hoping to “mine” the incredibly long DNA sequences for minute genetic differences that could help explain the devastation of the disease.


Through all the painstaking digging, researchers recently identified a gene, NEK1, as playing a role in ALS. The research, published in Nature Genetics on July 25, made headlines and raised hopes around the world.

NEK1 is one of about 15 genes now thought to be involved in ALS, Landers said in a video posted by the medical school.

The rare, awful condition, commonly known as Lou Gehrig’s disease, attacks nerves in the brain and spinal cord. The mind keeps working but eventually skeletal muscles stop. Physicist Stephen Hawking is the most famous person still alive to have it, though former Boston College baseball player Pete Frates, an ALS sufferer and impetus behind the Ice Bucket Challenge, has become a global ambassador for defeating the disease.

Locally, the Sun wrote about Worcester native Mary Beth Benison, who suffered from ALS and other conditions and died last year.

The research on ALS still has a long way to go. Though the NEK1 gene’s involvement merits the term “discovery,” it’s only a piece of the puzzle scientists are trying to solve so that medical treatments can be developed. In the stepwise way of science, NEK1 — which is involved in DNA repair and also cytoskeleton maintenance — helps fill in the picture, and studying it further will likely also help show where other pieces go.

“Anytime we discover a new gene for ALS, it brings us a little bit closer to understanding what actually is going wrong in ALS,” Landers explains in the UMass Medical School video.

And he says: “This discovery wouldn’t have happened without the Ice Bucket Challenge.”

The ALS Association has been funding Project MinE primarily with Ice Bucket Challenge donations. It said last week that the work leading to the discovery was the largest-ever study of familial, or inherited, ALS, and involved contributions from more than 80 researchers in 11 countries.

Landers’ lab is now using ALS Association funding to develop mouse models to better understand the role of NEK1 mutations in the disease process. The association, meanwhile, has begun a new campaign, Every Drop Adds Up.

Landers said in the statement that the ALS breakthrough, in which research teams around the world had a hand, “is a prime example of the success that can come from the combined efforts of so many people, all dedicated to finding the causes of ALS.”

Clearly, the millions who made donations through the Ice Bucket Challenge are part of that combined effort, and part of the celebration.

The dollars that flowed from that “viral” social media campaign went to work in the lab and advanced our understanding of a terrible illness.

Here in biotech-rich Worcester and around the world, imagine what might happen if science received more support in general.

This latest discovery, after all, is only a drop in the bucket of all the secrets science holds.

Participate in the Ice Bucket Challenge this month or learn how to donate and help at Pete Frates’ website or with the ALS Association.

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