ALS Ice Bucket Challenge Funding Leads to New Genetic Findings

— -- The ALS Ice Bucket Challenge, which went viral in 2014 as a fundraiser for research, has resulted in far more than just funny YouTube videos of people dumping icy water on themselves for a good cause. Researchers credit the $220 million raised as key in funding a new study that has possibly identified a common gene that contributes to amyotrophic lateral sclerosis (ALS).

ALS is a neurodegenerative disease that affects nerve cells in the spinal cord leading to loss of control over muscles. Eventually, the disease leads to total paralysis and death.

In a study published in The Nature Genetics Journal, researchers from various institutions, including the University of Massachusetts Medical School and the University Medical Center Utrecht, identified the gene NEK1 as a common gene that could have an impact on who develops the disease. Variants of the gene appear to lead to increased risk of developing ALS, according to preliminary findings. Researchers said they're eager to understand more about the disease.

Researchers in 11 countries studied 1,000 families in which a family member developed ALS and conducted a genome-wide search for any signs that a gene could be leading to increased ALS risk. After identifying the NEK1 gene, they also analyzed 13,000 individuals who had developed ALS despite no family history and found they had variants in that same gene, again linking that gene with increased ALS risk.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research," Lucie Bruijn, the chief scientist for the ALS Association, said in a statement. "The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available."

Multiple initiatives were started after the viral fundraiser started in the summer of 2014, including the Project MinE initiative aimed at creating a global gene sequencing effort with 15,000 affected people. Starting in the summer of 2014, the ALS Ice Bucket Challenge led to 17 million videos made and $220 million raised, according to the ALS Association — $115 million of which went to the association.

John Landers, a co-author of the study and an associate professor of neurology at the University of Massachusetts Medical School, said the funding helped create an international network of researchers to take on ALS.

“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery,” Landers said in a statement. “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.”

This is not the first time that the Ice Bucket Challenge has been credited for leading to significant results. Last summer a previously unknown protein was identified as an important marker for ALS, after researchers from Johns Hopkins found the TDP-43 protein tended to accumulate in people with ALS.

The funding windfall also helped get needed materials and devices to patients living with ALS, according to the ALS Association.