Ice Bucket Challenge Raises Funds For Breakthrough Gene Discovery In Amyotrophic Lateral Sclerosis (ALS)

The Ice Bucket Challenge that went viral in 2014 has funded an important scientific gene discovery in the progressive neuro-degenerative disease amyotrophic lateral sclerosis (ALS), the ALS Association says.The Ice Bucket Challenge has raised $115m from people pouring cold water over themselves and posting the video on social media. ALS or Lou Gehrig’s Disease is a motor neuron disease that is a fatal and rapidly progressive disease that affects the brain and spinal cord. It attacks nerves that control movement, so muscles refuse to work. It can leave people locked in a failing body, unable to move, talk and eventually, breathe. It kills around a third of people within a year of diagnosis and more than half within two years. There is no known cure yet. Scientist Stephen Hawking is best-known person with the disease.

It is often easy to dismiss viral charity campaigns as slacktivism, but a breakthrough discovery bankrolled by 2014’s ALS ice bucket challenge may give the lie to that cynicism. The ice bucket challenge was a phenomenon in the summer of 2014 in which people dunked a bucket of iced water over their heads in order to solicit donations before nominating others to do the same.

Scores of celebrities including Mark Zuckerberg,Anna Wintour, Tom Cruise, Charlie Sheen, Robert Downey Jr and hundreds more made videos, but the campaign was criticised by some. The campaign raised more than $100m in a 30-day period, and was able to fully fund a number of research projects. More than 17 million people uploaded videos to Facebook, which were then watched by 440 million people worldwide.

One of these was Project MinE, a large data-driven initiative funded by the ALS Association through ice bucket challenge donations, as well as donations from the organization’s Georgia and New York chapters. The project’s researchers announced that they have identified a new gene associated with the disease, which experts say could lead to new treatment possibilities.

Project MinE has been working to sequence the genomes of 15,000 people with the disease, and the discovery, which was described in a paper published in the journal Nature Genetics involved more than 80 researchers in 11 countries.

“It’s very exciting because it shows everyone who contributed to the ice bucket challenge that their donation had an impact on the research,” said Brian Frederick, executive vice-president of communications and development at the ALS Association. “The work that Project MinE is doing is really important, and the discovery of this new gene will help us better understand ALS.” Brian added.

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The newly discovered gene, NEK1, is only associated with 3% of ALS cases, but it is present in both inherited and sporadic forms of the disease, which researchers say gives them a new target for the development of possible treatments.Although only 10% of ALS patients have the inherited form, researchers believe that genetics contribute to a much larger percentage of cases.

The discovery was significant, Frederick said, “because it helps us understand what’s triggering this and can help us better find a treatment,” though he added that “it’s still very early in our understanding of this particular gene, and we still have a ways to go with understanding ALS generally."

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Source-Medindia