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Ice Bucket Breakthrough

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Remember the Ice Bucket Challenge in the summer of 2014?

Every time you turned around, social media was showing someone dumping a bucket of icy water over his or her head—or coming up with a quirky way to “take the challenge”—in order to raise funds to find a cure for amyotrophic lateral sclerosis (ALS), aka Lou Gehrig’s disease.

Now it may bring us closer to a cure.

Ice Bucket donations paid for the largest-ever study of ALS, a progressive neurodegenerative disease that affects the brain and spinal cord and frequently leads to paralysis and death as quickly as two years from diagnosis. It often runs in families.

Result: A breakthrough discovery of a new gene called NEK1, which is involved in many neuron functions. Some variants of the gene are prone to loss of function. The researchers found a significant association between this genetic abnormality and increased risk for familial ALS. While only a small percentage of people with ALS have the familial kind, the researchers believe that NEK1 may also be involved in nonfamilial ALS.

While there isn’t a cure—yet—understanding more about NEK1 is an important step toward developing treatment for this devastating disease.

All that ice, dumped on all those shivering heads and shoulders, made it possible.

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Source: Paper titled “New gene variants present in three percent of all ALS patients: Largest-ever study of inherited ALS identifies new ALS gene, NEK1” by researchers at University of Massachusetts Medical School et al. published in Nature Genetics. Date: August 23, 2016 Publication: Health Insider