ALS Ice Bucket Challenge Yields New Genetic Discovery

Man participating in ice bucket challengeIn 2014, videos of people dumping buckets of ice water on their heads flooded social media. The purpose of the ALS ice bucket challenge was to draw awareness and funding for amyotrophic lateral sclerosis (ALS). Known sometimes as Lou Gehrig’s Disease, ALS is a progressive neurodegenerative condition that produces dysfunction in the spinal cord and muscles through nerve death in the brain. People with ALS steadily lose control over their bodies. This progressive deterioration can spark mental health challenges such as depression and anxiety. There is no cure for ALS.

Now, researchers are crediting the ice bucket challenge with raising funds that produced a groundbreaking genetic discovery in the fight against ALS. According to a study published in the journal Nature Genetics, a gene known as NEK1 is one of the most common genetic contributors to ALS. This discovery could potentially lead researchers to new treatment options for people who have the condition.

Genetic Discovery Provides New Information About ALS

Researchers from 11 nations studied 1,022 people with ALS who also had a family history of the disease. They compared genetic data from these individuals to those from 7,315 families without a history of the disease. To assess differences in genetic risk factors, the team also compared data from 13,883 people who developed ALS, but who had no family history of the disease.

People who eventually developed ALS were more likely to carry mutations in a gene known as NEK1, whether or not they had a family history of the disease. This suggests NEK1 mutations are a major risk factor for developing ALS, even in people who have no family history.

Mutations in NEK1 can produce a number of changes in the body that are linked to ALS, including DNA damage and changes in neuron structure. The finding has not produced new treatments for ALS yet, though it could eventually be used to identify people at risk for ALS.

The ice bucket challenge raised more than $200 million for ALS research—an unprecedented amount of funding to fight the disease. The ALS Association received more than $115 million to go toward further research, treatment options, and improvements in quality of life for people with the condition.

References:

  1. Kenna, K. P., Van Doormaal, P. T., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., . . . Landers, J. E. (2016). NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. doi:10.1038/ng.3626
  2. Medici, A. (2016, August 1). New ALS gene discovery just a drop in the ice bucket challenge legacy. Retrieved from http://www.bizjournals.com/washington/news/2016/08/01/new-als-gene-discovery-just-a-drop-in-the-ice.html
  3. Mohney, G. (2016, July 27). ALS ice bucket challenge funding leads to new genetic findings. Retrieved from https://gma.yahoo.com/als-ice-bucket-challenge-funding-leads-genetic-findings-160314430–abc-news-wellness.html
  4. Symptoms and diagnosis. (n.d.). Retrieved from http://www.alsa.org/about-als/symptoms.html

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  • adrian

    adrian

    August 8th, 2016 at 4:34 PM

    And people said that this would never make a difference-
    guess they have been proven wrong.

  • Josh

    Josh

    August 8th, 2016 at 7:36 PM

    I’ll admit I’m surprised. Hey, where’d the 85 million, that was raised but didn’t go to the ALS Foundation, go to? 200 million total, 115 million to ALS Foundation.

  • Lucas

    Lucas

    August 9th, 2016 at 2:32 PM

    Maybe the amounts were over inflated? I sure do hope that no one would try to profit from this!

  • Jimmie

    Jimmie

    August 10th, 2016 at 11:24 AM

    My dad passed from ALS so knowing that this challenge caught on, got so many people involved and sparked such an interest in the disease, that is a blessing to me.

  • zac

    zac

    August 13th, 2016 at 2:10 PM

    I love it when things like this go viral and the make such an impact on so many peoples lives. I do wish that there was a way where we could maintain the momentum that we so often create and then it just seems to die down just as quickly. I know that we are a fast paced society and we tend to move pretty quickly form one idea to the next but I think about all the people who could likely benefit if we were to for once sort of stay the course and remain committed to a cause.

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