It’s been two years since we all dumped buckets of freezing water on our heads to raise money for ALS research—and it turns out all of those silly videos actually paid off. The ALS Association used a portion of the money raised by the ice bucket challenge to fund the research initiative Project MinE, which led to the discovery of NEK1, a previously unknown gene associated with amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease), a progressively degenerative neurological disease that kills most of its victims within five years of diagnosis.
Since 2011, researchers with Project MinE—who published their findings this week in the journal Nature—have been working to sequence the genomes of people with and without ALS in order to better understand the genes associated with the disease. A $1 million donation from the ALS Association provided Project MinE researchers with the financial resources needed for DNA sequencing.
With the help of 80 researchers in 11 countries, the study authors were able to determine that NEK1 was linked to ALS in both familial and sporadic cases of the disease. (While familial ALS is inherited, sporadic ALS can affect anyone; it accounts for more than 90 percent of cases in the U.S.) Previous research has shown that NEK1 has a range of roles in neurons, which are all disrupted by the disease.
The gene isn’t present in all cases of ALS, researchers say. Nor is NEK1 the first gene linked to ALS. In fact, The New York Times notes, 30 genes tied to the disease have already been discovered. Nevertheless, NEK1 appears to be present in a significant number of ALS cases and could help lead researchers to new treatments.
“The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available,” Lucie Bruijn of the ALS Association explained in a statement. “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.”
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