Ice Bucket Challenge funds gene discovery in ALS (MND) research


The Ice Bucket Challenge that went viral in 2014 has funded an important scientific gene discovery in the progressive neurodegenerative disease ALS, the ALS Association says.

Scientists have identified a new gene contributing to the disease, NEK1.
The Ice Bucket Challenge has raised $115m (£87.7m) from people pouring cold water over themselves and posting the video on social media.

It was criticised as a stunt, but has funded six research projects.

Research by Project MinE, published in Nature Genetics, is the largest-ever study of inherited ALS, also known as motor neurone disease (MND).
More than 80 researchers in 11 countries searched for ALS risk genes in families affected by the disease.

"The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available," Lucie Bruijn of the ALS Association says.
The identification of gene NEK1 means scientists can now develop a gene therapy treating it.

Although only 10% of ALS patients have the inherited form, researchers believe that genetics contribute to a much larger percentage of cases.

Social media was awash with videos of people pouring cold water over their heads to raise money for ALS in the summer of 2014.

More than 17 million people uploaded videos to Facebook, including many celebrities who rose to the challenge, which were then watched by 440 million people worldwide.

What is amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND)?

    fatal, rapidly progressive disease that affects the brain and spinal cord
    attacks nerves that control movement so muscles refuse to work (sensory nerves are not usually affected)
    can leave people locked in a failing body, unable to move, talk and eventually, breathe
    affects people from all communities
    scientist Stephen Hawking is best-known person with the disease
    kills around a third of people within a year of diagnosis and more than half within two years
    there is no cure

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