Ice bucket challenge credited for ALS gene breakthrough

Remember the ice bucket challenge that went viral in 2014? The viral charity campaign has funded an important scientific gene discovery in the progressive neurodegenerative disease ALS, also known as motor neuron disease.

The ice bucket challenge was a phenomenon in the summer of 2014. People dunked a bucket of iced water over their heads in order to solicit donations before nominating others to do the same.

Celebrities including Mark Zuckerberg, Anna Wintour, Tom Cruise, Charlie Sheen, Robert Downey Jr and hundreds more made videos, but the campaign was criticised by others.

Time called it “problematic in almost every way”, going on to say that “most of its participants ... didn’t mention the disease at all. The chance to jump on the latest trend was an end in itself. In fact, the challenge’s structure seems almost inherently offensive to those touched by ALS.”

Generally it is easy to dismiss viral charity campaigns as simplistic brand awareness campaigns that lack any real-world impact which often, in fact, generate further misinformation around a theme. Does anyone remember Invisible Children’s Kony 2012 campaign?

However, in this case the ice bucket challenge campaign raised more than $100 million in a 30-day period. The money was used to fully fund a number of research projects.

One of these was Project MinE, a data-driven initiative funded by the ALS Association through ice bucket challenge donations, as well as donations from the organization’s Georgia and New York chapters. The project’s researchers announced on Monday that they have identified a new gene associated with the disease, which experts say could lead to new treatment possibilities.

Amyotrophic Lateral Sclerosis, also known ALS or Lou Gehrig’s Disease, is a neurological disorder in which the motor neurons that control muscle function slowly die. The disease can be either sporadic or inherited, and in either case there is currently no cure.

"It's very exciting because it shows everyone who contributed to the ice bucket challenge that their donation had an impact on the research," said Brian Frederick, executive vice-president of communications and development at the ALS Association. "The work that Project MinE is doing is really important, and the discovery of this new gene will help us better understand ALS."

The newly discovered gene, NEK1, is only associated with 3 per cent of ALS cases, but it is present in both inherited and sporadic forms of the disease, which researchers say gives them a new target for the development of possible treatments.

Project MinE has been working to sequence the genomes of 15,000 people with the disease, and the discovery, which was described in a paper published on Monday in the journal Nature Genetics, involved more than 80 researchers in 11 countries.

The discovery was significant, Frederick said, “because it helps us understand what’s triggering this and can help us better find a treatment,” though he added that “it’s still very early in our understanding of this particular gene, and we still have a ways to go with understanding ALS generally.”

Additional reporting: PA