Researchers in the Project MinE global gene sequencing effort have identified a new, critical ALS gene, thanks to funding provided by the ALS Ice Bucket Challenge donations.

The project’s discovery of gene NEK1 would not have been possible without donations from the challenge–proving that online campaigns can lead to direct, measurable impacts on disease management and overall health. The ALS Association announced the allocation of $1 million from the Ice Bucket Challenge donations to Project MinE in October 2014, enabling the project to expand to the United States.

According to Bernard Muller, brainchild of Project MinE, “The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world. Thankfully, The ALS Association brought Project MinE to the United States. This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS. I’m incredibly pleased with the discovery of the NEK1 gene adding another step toward our ultimate goal, eradicating this disease from the face of the earth.”

NEK1 now ranks among the most common genes that contribute to ALS, giving scientists another avenue for therapy development.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” said Lucie Bruijn of the ALS Association. “The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available. 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 NEK1 gene was discovered through a genome-wide search for ALS risk genes in more than 1,000 ALS families. Ten percent of ALS is familial, meaning it is passed down genetically. In comparing familial ALS cases with sporadic ALS cases, researchers found an overrepresentation of variants in the same gene–NEK1.

“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery,” said John Landers, researcher on Project MinE. “It 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. This kind of collaborative study is, more and more, where the field is headed.”

Earlier this month, the ALS Association started a new campaign, Every Drop Adds Up, in the hopes of continuing what the Ice Bucket Challenge started.

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Robin Tiberio
Robin Tiberio
Robin Tiberio is a Staff Writer for MeriTalk covering Health IT.