It took a lot of shockingly cold water, but the Ice Bucket Challenge that swept the world in 2014 actually lit a fire for ALS research.
Now, two years later, a project largely funded from those donations has produced remarkable breakthroughs that could give hope to those affected by the degenerative disease.
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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a rapidly progressive neurodegenerative disease that leads to death. Roughly 20,000 Americans have been diagnosed with it, and there is currently no cure. Back in 2014, the Ice Bucket Challenge involved getting doused with a bucket of cold water to raise awareness and money for ALS research. Videos from the challenge proliferated, and celebrities got involved.
Regardless of whether you thought it was beneficial or reckless, the campaign ultimately brought in $117 million during an eight-week period, the ALS Association reported. Numerous research initiatives such as Project MinE got started from that crowd funding. And this week, researchers connected to that project announced they had discovered two new ALS genes, reports The Guardian.
Sequencing the whole genome of four ALS patients in the Netherlands, the researchers found a gene called NEK1. Mutations on it cause an increased risk for the disease. In another study looking at the genes of 1,861 people, the researchers found a gene named C21orf2 harboring rare mutations that directly increase ALS risk, Project MinE said in a press release.
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"This makes the C21orf2 gene extremely interesting for future studies to shed light on the mechanisms that lead to ALS and possibly future therapeutic strategies," lead co-author Jan Veldink told the project.
The larger goal for Project MinE is to complete whole genome sequencing for 15,000 ALS patients and 7,500 control subjects. It's a daunting task but at that point the researchers hope they can close in on a cure.
ALS is a heart-wrenchingly awful disease. One of the moments in Ken Burns' classic "Baseball" series that never fails to make me tear up is Lou Gehrig's retirement speech in 1939, when he was only 36 years old. He died two years later. If throwing around some icy water ends up leading us to a cure, we really will be in luck.
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