Ice bucket challenge funds important gene discovery in ALS research

The ice bucket challenge that went viral in 2014 has led to a significant gene discovery, after donations helped with the funding of the research.

According to a paper published in Nature Genetics, researchers part of Project MinE’s global gene sequencing effort have identified a new ALS gene, NEK1, which now ranks among the most common genes that contribute to the disease, providing scientists with another potential target for therapy development.

This was the largest-ever study of familial (inherited) ALS, involved contributions from over 80 researchers in 11 countries, and was led by John Landers, Ph.D., of University of Massachusetts Medical School in Worcester, Mass. and Jan Veldink, Ph.D., of University Medical Center Utrecht, in The Netherlands.

ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which leads to total paralysis and death, usually within two to five years of diagnosis.

While 10% of ALS is familial, meaning it’s genetic, the other 90% of ALS cases are considered sporadic, or without a family history. However, it’s very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” said ALS Association chief scientist Lucie Bruijn.

“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.”