Genetic breakthrough made in neurological disorder research

A MAJOR breakthrough in research of a neurological disorder has been made thanks to fundraising through the ice bucket challenge.

Breakthrough made in motor neurone research. Picture: PA
Breakthrough made in motor neurone research. Picture: PA

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. There is currently no cure.

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The ice-bucket campaign helped raised more than $100m (£76m) in a 30-day period, and was able to fully fund a number of research projects.

One of these was Project MinE, a large data-driven initiative funded by the ALS Association through ice bucket challenge donations, as well as donations from the organisation’s Georgia and New York chapters.

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The project’s researchers have announced they have now identified a new gene associated with the disease, which experts say could lead to new treatment possibilities.

Brian Frederick, executive vice-president of communications and development at the ALS Association, said: “It’s very exciting because it shows everyone who contributed to the ice bucket challenge that their donation had an impact on the research.

“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% 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.

The discovery, which was described in a paper published in the journal Nature Genetics, involved more than 80 researchers in 11 countries.

Mr Frederick described the discovery as significant “because it helps us understand what’s triggering this and can help us better find a treatment”.

However, 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.”

The ice bucket challenge was a phenomenon in which people dunked a bucket of iced water over their heads in order to earn donations before nominating others to do the same.

Scores of celebrities including Mark Zuckerberg, Tom Cruise, Charlie Sheen and Robert Downey Jr, took part.

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