8 years ago
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2014 Ice Bucket Challenge leads to ALS breakthrough
The Ice Bucket Challenge of two summers ago did more than deliver a chilly thrill to millions of people. The money it raised has led to an important breakthrough in ALS research. Scientists at the University of Massachusetts Medical School have discovered a new gene that's responsible for the disease. Genetic testing in over 1,000 ALS families showed 3 percent of patients had a variation of the gene that supplies neurons and repairs DNA.
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This is great news, obviously, however NEK1 gene has been previously described as possibly involved in ALS. More so, as mentioned in the article only 3% of patients carry the variation, meaning this is not and won't be a silver bullet for treating ALS. It provides us some insight in the disease, might allow for early diagnosis/treatment of some patients, but other disease targets are needed.