Wednesday, July 27, 2016

ALS ice bucket challenge leads to real-life genetics discover


You couldn't go on social media in 2014 without seeing a new video of a friend, celebrity or tech star dumping a bucket of ice water over his or her head to raise money for research into the degenerative neurological disorder ALS, short for amyotrophic lateral sclerosis.

Now, it looks like that "ice bucket challenge" produced some very real scientific results, according to the ALS Association.
A new Nature Genetics study — funded by money raised through the ice bucket challenge — details the discovery of a new gene associated with ALS.
The gene, named NEK1, appears to be one of the most common found in association with the disease and may be a good option for future gene therapy, the new study suggests.
“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery,” co-author of the new study John Landers, said in a statement
“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.”
Scientists found the gene by searching the genomes of more than 1,000 ALS families. Researchers also independently found the gene in a Dutch population, the ALS Association said.

The new study is part of Project MinE, a gene sequencing effort looking at the genomes of about 15,000 people with ALS around the world that's funded by donations raised through the ice bucket challenge. 
“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” ALS Association scientist Lucie Bruijn said in the statement. “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.”
In total, the challenge raised about $115 million, with about $77 million of that going to research. The viral hit also produced some amazing videos. 
Stars like Chris Pratt and Justin Timberlake got in on the ice bucket action, and even tech giants like Bill Gates and Mark Zuckerberg took the plunge for ALS research.

This August, the ALS Association is asking for donations as part of its "Every Drop Adds Up" campaign. The new campaign asks contributors to talk about their commitment to fighting ALS.