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Ice bucket pays off.

The Ice Bucket Challenge that went viral two years ago, raising hundreds of millions of dollars, has helped identify a new gene behind the neurodegenerative disease amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, researchers say.

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According to a paper published in July in Nature Genetics, researchers part of Project MinE's global gene sequencing effort, funded by The ALS Association through ALS Ice Bucket Challenge donations, have identified NEK1, which now ranks among the most common genes that contribute to ALS. The discovery provides scientists with another potential target for therapy development.

This was the largest study of inherited ALS, involved contributions from more than 80 researchers in 11 countries, and was led by John Landers, PhD, of the University of Massachusetts Medical School in Worcester, Mass., and Jan Veldink, PhD, of the University Medical Center Utrecht in the Netherlands.

ALS is a progressive disease that affects nerve cells in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which leads to total paralysis and death, usually within two to five years of diagnosis. While 10% of ALS is inherited, meaning it's genetic, the other 90% of ALS cases are considered sporadic, or without a family history. However, it's very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases.

"The discovery of NEK1 highlights the value of 'big data' in ALS research," says Lucie Bruijn, PhD, MBA, in a press release on The ALS Association website (alsa.org). "The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available. The ALS Ice Bucket Challenge enabled The ALS Association to invest in Project MinE's work to create large biorepositories of ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result."

The Ice Bucket Challenge involved people pouring ice-cold water over their heads, posting video on social media and donating funds for research on the condition. Paralyzed Veterans of America (PVA) President Al Kovach Jr. and the late Homer S. Townsend Jr., who was then executive director, participated in the challenge at the 2014 PVA Summit + Expo. The challenge raised $220 million worldwide, according to The ALS Association.

The ALS Association is currently funding Landers and Catherine Lutz, Jackson Laboratories, to develop novel mouse models to better understand the consequences of the loss of the NEK1 protein's function for the ALS disease process. They will provide rapid access to these models for broader ALS research as soon as they are generated.

The ALS Association seeks to raise awareness and funds with a new campaign, called Every Drop Adds Up. Visit everydropaddsup.org to learn more.

Contributers: Jill Serjeant and Melissa Fares/ Reuters.

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Title Annotation:newsbeat
Author:Serjeant, Jill; Fares, Melissa
Publication:PN - Paraplegia News
Date:Oct 1, 2016
Words:468
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