advertisement

Ice Bucket Breakthrough

Date: August 23, 2016      Publication: Health Insider      Source:  University of Massachusetts Medical School      Print:

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.

advertisement


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.

advertisement


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.