Discovery of New ALS Gene Attributed to Funding From Ice Bucket Challenge

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Discovery of New ALS Gene Attributed to Funding From Ice Bucket Challenge
Discovery of New ALS Gene Attributed to Funding From Ice Bucket Challenge

HealthDay News -- A study funded by the popular "ALS Ice Bucket Challenge" has reportedly discovered an important new amyotrophic lateral sclerosis (ALS) gene. The study, which involved more than 80 researchers in 11 countries, was published in Nature Genetics.

The ALS Association used Ice Bucket Challenge donations to fund Project MinE, an international effort to sequence the genomes of at least 15,000 individuals with ALS.

Researchers now report on the fruits of that effort: The NEK1 gene was discovered through a search for ALS risk genes in 1022 families with a history of ALS. Further gene testing, of more than 13,000 patients with ALS who did not have a family history of the disease, also revealed over-representation of variants in the NEK1 gene.

"Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery," study co-leader John Landers, PhD, from the University of Massachusetts Medical School in Worcester, said in an ALS Association new release. "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."

Reference

Kenna KP, Van doormaal PT, Dekker AM, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet. 2016; doi:10.1038/ng.3626.

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