Ice Bucket Challenge Leads to Breakthrough Discovery of Gene Causing ALS

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The Ice Bucket Challenge viral campaign that swept the Internet in 2014 has shown some promising results. People who participated in raising awareness and donating money to ALS research (Amyotrophic Lateral Sclerosis, also known as Lou Gehrig’s disease, named for the famous professional baseball player who brought awareness of the disease to the public) by making videos of themselves pouring a bucket of ice and cold water over their heads contributed to a scientific research breakthrough.

Using part of the estimated $115 million raised, researchers identified a certain gene that they think might cause some cases of ALS, which is a neurological disease that attacks the brain and spinal cord. The ALS Association announced their findings in a statement released on Monday.

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More than 80 researchers from 11 countries worked together on the MinE project, which was the largest study of familial, or inherited ALS. Their findings include the new ALS gene, named NEK1, identified as one of the most common genes that contributes to the disease being passed down genetically.

Scientists can now target that gene for the development of therapy to fight against the disease, which affects an estimated 30,000 people. Only 10 percent of ALS cases are familial, but the breakthrough is a step towards progress for treatment of the disease, which so far has seemed like an unsolvable case.

“The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world. Thankfully, The ALS Association brought Project MinE to the United States,” Bernard Muller, who came up with the MinE project and lives with ALS said in a statement.

“This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS. I’m incredibly pleased with the discovery of the NEK1 gene adding another step towards our ultimate goal, eradicating this disease from the face of the earth,” he added.

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Last year, another breakthrough discovery funded in part by the Ice Bucket Challenge found that in 97% of ALS cases a binding protein called TDP-43 in the nucleus of the cell wasn’t functioning properly.

John Landers, Ph.D., of University of Massachusetts Medical School in Worcester, Massachusetts who worked on the MinE project is quoted as saying, “Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery. It is a prime example of the success that can come from the combined efforts of so many people, all dedicated to finding the causes of ALS. This kind of collaborative study is, more and more, where the field is headed.”



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