Researchers discover motor neurone disease gene thanks to fundraising campaign that encouraged celebs to douse themselves with freezing water
Celebrities who doused themselves with freezing cold water for charity have helped scientists make a discovery that could help sufferers of motor neurone disease.
The Ice Bucket Challenge went viral in 2014 as scores of famous figures including Tom Cruise, Ruth Langsford, Benedict Cumberbatch, David Beckham, Lady Gaga, Kim Kardashian and Taylor Swift posted videos showing them getting a chilly drenching.
Despite being dismissed in some quarters as a pointless stunt, the campaign raised $115 million and funded six research projects.
Significantly, one of them has now led to the discovery of a new gene linked to amyotrophic lateral sclerosis (ALS), also known as motor neurone disease – the progressive brain condition suffered by Stephen Hawking. Defective variants of the gene, NEK1, are only found in three per cent of ALS sufferers but are present in both inherited forms of the disease and ‘sporadic’ cases without any family connection.
The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world
Scientists believe the gene could guide them to the development of potential new treatments.
The Project MinE study, which produced the discovery, was funded by US charity the ALS Association using money from the Ice Bucket Challenge.
More than 80 scientists from 11 countries identified NEK1 after searching for ALS risk genes in more than 1,000 affected families and 13,000 individuals with the ‘sporadic’ form of the disease.
Their results were published in the journal Nature Genetics.
Project MinE was the brainchild of entrepreneur and Dutch ALS patient Bernard Muller. He said: “The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world.”
It has been reported that more than 17 million people uploaded Ice Bucket Challenge videos to Facebook.