The Ice Bucket Challenge Has Paid for a 'Significant' Gene Discovery

It raised a monumental $1 billion for the ALS Association.

Getty Images / Robert Prezioso

Because of the Ice Bucket Challenge and the money it raised, teams of researchers in some eleven countries have identified a new Amyotrophic lateral sclerosis gene, NEK1, which ranks among the most common that contribute to the disease commonly known as Lou Gehrig’s Disease.

Back in August 2014, it became a viral phenomenon as participants covered themselves in a bucket of ice-cold water, and while they wiped dry their faces, challenged a friend or two to do the same. Each video was supposed to go with a donation to the ALS Association.

The disease affects neurons in the brain and spinal cord. It’s characterized by stiff muscles, twitching, and gradually worsening weakness due to muscles decreasing in size. There’s no cure, and the cause isn’t known in around 90 percent of cases.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” says Lucie Bruijn, Ph.D., M.B.A., in a statement. “The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available,” she said. “The ALS Ice Bucket Challenge enabled the ALS Association to invest in Project MinE’s work to create large biorepositories of ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result.”

The ice bucket challenge began with former Boston College baseball player Peter Frates, who challenged his former teammates and NFL pros like Tom Brady to do the same and spread awareness about ALS, which he’d been diagnosed with in 2012.

More importantly, the Ice Bucket Challenge raised a monumental $1 billion for the ALS Association, which donated it to the University of Massachusetts Medical School’s Project MinE.

Project MinE’s findings have identified the gene as NEK1, which has possible variants that could help researchers figure out how to create medicine for treatment — and, hopefully, destruction — of the gene inside of the body. So far, NEK1 has been found in a consistent 3 percent of cases within the United States and Europe, which is enough to warrant further investigation.

Entrepreneur and ALS advocate Bernard Muller spoke on the success of the challenge, and why the silly summer fad from 2014 resonates so strongly today. “This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS,” Muller told the ALS Association. “I’m incredibly pleased with the discovery of the NEK1 gene adding another step towards our ultimate goal, eradicating this disease from the face of the earth.”

According to ALS Association stats, an average of 15 people are newly diagnosed with ALS every day and more than 5,600 people per year. As many as 30,000 Americans may currently be affected by ALS. Annually, ALS is responsible for two deaths per 100,000 people.

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