It was seen as a gimmick: In 2014, people around the world dumped buckets of ice over their heads, challenging their peers to do the same while raising money for ALS. Now scientists who received funding from the Ice Bucket Challenge say they’ve uncovered an important discovery shedding light on the disease.
A team of doctors who got $1 million in Ice Bucket Challenge funding say they’ve identified a new ALS gene, called NEK1, from their research. They say it should be ranked as one of the most common genes that contributes to the disease.
Their findings, published this week in the journal Nature Genetics, could help doctors with carving out a concrete treatment, the researchers say.
“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery,” Dr. John Landers, the study’s lead author, 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,” Landers said.
READ MORE: Ice Bucket Challenge raises over $16M for ALS Canada
ALS – or amyotrophic lateral sclerosis – is a neurodegenerative disease where the nerve cells that control your muscles die, according to ALS Canada. The “living wires” that connect your brain to your muscles degenerate, leading to a loss of mobility, loss of speech and paralysis.
By summer 2014, the ALS Association’s Ice Bucket Challenge swept the world. Ultimately, about $115 million was raised – Canadians raised over $16 million for the cause. Ten million dollars was poured into research while $6 million was doled out to programs that deliver support to Canadians who suffer from ALS.
Global scientists, led by experts out of the University of Massachusetts Medical School, saud they put their $1 million in funding to use in the “largest-ever” study of inherited ALS.
Keep in mind, 10 per cent of ALS cases are genetic.
READ MORE: Will the Ice bucket challenge change how non-profits fundraise?
For his research, Landers and his team conducted a genome-wide search for ALS risk genes in more than 1,000 ALS families.
They also looked at genes in 13,000 people who had “sporadic” ALS, which means they were diagnosed without a family history.
In both cases, there was an overrepresentation of NEK1. It’s known to play a part in maintaining the cytoskeleton that gives neurons their shape. Landers and his team estimate that NEK1 is linked to three per cent of all ALS cases.
These results were two years in the making. In 2014, the ALS Association announced its funding for Project MinE, which was an international effort to sequences the genomes of 15,000 people with ALS.
MinE eastablished a U.S. arm, which pulled in Landers’ research.
READ MORE: What is ALS? The disease behind the ice bucket challenge
The ALS Association is still pouring money into Landers’ next steps. He said he plans on working with mouse models to better understand NEK1’s role in the disease.
Read more about the findings here.
carmen.chai@globalnews.ca
Follow @Carmen_Chai
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