Ice Bucket Challenge leads to major ILS gene breakthrough

Money raised by the viral charity campaign where people poured a bucket of ice water over their head has helped researchers discover a new gene associated with ALS. The Ice Bucket Challenge was a phenomenon in the summer of 2014 and saw celebrities such as Mark Zuckerberg, Lewis Hamilton, Justin Timberlake, Bill Gates and Tom Cruise getting in on the act. Amyotrophic Lateral Sclerosis (ALS), also commonly known as Lou Gehrig’s Disease, or motor neurone disease, is a rapidly progressive fatal neurological disease that affects nerve cells in the brain and the spinal cord. The ALS Association raised more than $100m (£76m) and contributed $1m to Project MinE - an international study to sequence the genomes of at least 15,000 people with ALS.

The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available.

Lucie Bruijn, chief scientist for the ALS Association

It has led to the discovery of a new ALS gene, NEK1, which now ranks among the most common genes that contribute to the disease. The breakthrough provides scientists with another potential target for therapy development. “The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” said Lucie Bruijn, chief scientist for the ALS Association.

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