The widely promoted YouTube videos of people dumping icy water on themselves, known as the ALS Ice Bucket Challenge of 2014, raised $220 million which contributed to the possible identification of a common gene that contributes to Amyotrophic Lateral Sclerosis (ALS). Not only has the money provided continuing funds for the global collaboration of scientists, it has helped get the needed materials and devices to patients living with the disease. Also, researchers from Johns Hopkins identified an important marker for ALS, the TDP-43 protein which accumulated in people with ALS, again, due to money raised by the Ice Bucket Challenge.
The Challenge led to 17 million videos and prompted multiple initiatives, including the Project MinE initiative, aimed at creating a global gene sequencing effort with 15,000 affected people. John Landers, associate professor of neurology at the University of Massachusetts Medical School and co-author of the study, said the funding helped create an international network of researchers to take on ALS.
Major researchers from various institutions, including the University of Massachusetts Medical School and the University Medical Center Utrecht, identified the gene NEK1 as a common gene that could have an impact on who develops ALS. Preliminary findings indicate that variants of the gene appear to lead to increased risk of developing the disease. Included in the studies were 1,000 families with a family member who developed ALS and after identification of the NEK1 gene, another 13,000 individuals who had developed ALS despite no family history; they had variants in that same NEK1 gene, linking that gene with increased ALS risk. Lucie Bruijn, chief scientist for the ALS Association, said: “The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available.” For additional information go to:
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