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Ice bucket challenge credited for ALS gene breakthrough

Celebrities at the Jimmy Fallon Show also took part in the viral ice bucket challenge in 2014. Photograph: (Getty)

Reuters Massachusetts, US Jul 28, 2016, 01.04 AM (IST)
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 ALS, or Lou Gehrig's disease, according to researchers.

The challenge involved people pouring ice-cold water over their heads, posting video on social media, and donating funds for research on the condition, whose sufferers include British physicist Stephen Hawking.

Celebrities including Hilary Swank and former US President George W Bush were among millions of people who took part in 2014, attracting more than 400 million views on social media.

The challenge raised $220 million worldwide, according to the Washington-based ALS Association. News of the gene discovery again sent Ice Bucket Challenge viral on Wednesday (July 27).

"It is a worldwide effort. There were 80 authors on this publication from 11 different countries and so all of them contributed and if we didn't do this as one large group, this discovery wouldn't have been identified," John Landers of the University of Massachusetts Medical School said on Wednesday. Landers and Jan Veldink of University Medical Center Utrecht led the study.

"Once the Ice Bucket Challenge kicked in, the ALS Association, which received a large majority of the Ice Bucket money in the US came to us and said, 'Well, we can actually fund your study now' and as a result of that, we've been able to participate in this global effort on ALS genetics and as a result that was a major contributor to the finding that we just published indicating that we've identified a new susceptibility gene for ALS," Landers continued.

The money funded the largest ever study of inherited ALS and identified a new gene, NEK1, that ranks among the most common genes that contribute to amyotrophic lateral sclerosis.

"The importance of finding this gene is, from our point of view, is as we understand more and more of these genes we can actually understand what is going wrong in ALS patients. In reality we don't really have a good grasp on what is actually going wrong in ALS patients, but as we find more genes that seem to contribute to the disease itself, what it does is that it gives us what pathways may be going wrong in ALS patients and as a result this can lead us to therapeutic treatments for ALS patients," Landers said.

The research was published in the scientific journal Nature Genetics this week and scientists hope it will provide another potential target for therapy development.

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