ALS-related gene found with help from Ice Bucket Challenge

Back in 2014, a relatively new trend for dumping cold water over your head in return for charitable donations morphed into the “ice bucket challenge” when several celebrities specifically nominated ALS research as the target of their fundraising.

The newly discovered associated gene, NEK1, now ranks among the most common genes that contribute to the disease, according to a paper in Nature Genetics.

The social media-driven Ice Bucket Challenge initiative led to over 17 million people posting videos of themselves taking the splash for ALS, also called Lou Gehrig’s disease, which leads to the gradual deterioration of nerve cells in the brain and spinal cord.

“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery”, one of the lead researchers, John Landers, Ph.D., of University of Massachusetts Medical School in Worcester, Massachusetts, said in a statement.

The identified gene is NEK1, which its variants could provide clues to understanding and potentially treating familial and sporadic ALS.

Project MinE, a collaboration between Dr. John Landers at UMass in Worcester and Dr. Jan Veldink from UMass’ center in the Netherlands, discovered the gene after an global effort to sequent the genomes of at least 15,000 people with ALS.

In total, the challenge raised about $115 million, with about $77 million of that going to research.

“The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world”. Shaw, diagnosed with ALS in April 2014, is helping revive the challenge with the ALS Association hoping to turn August 2015 into an annual fundraiser similar to October represents breast cancer awareness month.

ALS says the ice bucket impact helped 15,000 patients a year with services, provided $77 million to research and more.

Some 10pc of cases involves genes inherited from a family member, and the study involved more than 80 researchers in 11 countries working with families affected by the disease.

Their analysis led them to the NEK1 gene, which can compromise the structure and function of neurons in certain variations and increase the risk of ALS, the association said in a press release.