2014 Ice Bucket Challenge led to ALS gene breakthrough

27 Jul 2016

Long forgotten as an online fad, the Ice Bucket Challenge had its fair share of fans and critics alike. But this charitable challenge funded what may be a major genetics breakthrough.

The Ice Bucket Challenge – for those of you who missed the entirety of 2014 – saw people as famous as Mark Zuckerberg and former US president George W Bush get a bucket full of ice water dumped over their heads either for charity, or simply as a challenge.

Yet, before it was taken over by famous imitators, the first challenge originated from the ALS Association in the US as a means of raising money to fund future research into amyotrophic lateral sclerosis (ALS).

Future Human

Raised $100m in 30 days

Otherwise known as Lou Gehrig’s disease, ALS is a debilitating neurological disorder in which muscle function slowly deteriorates in the body until the person eventually dies, and it is not typically familial.

While now firmly outside the viral zeitgeist, it has been revealed that all of this fundraising for ALS research was not in vain as the money raised helped identify a new gene associated with the condition.

Over the course of just 30 days, the association was able to raise around $100m for ALS research projects. Most notably, Project MinE, which has now identified an ALS-associated gene called NEK1.

The gene was discovered through a genome-wide survey of over 1,000 ALS families, and was independently found through different means in an isolated population in the Netherlands.

Following further analysis of over 13,000 sporadic ALS individuals compared to controls, it was again found that there was an over-representation of variants in the same gene.

Value of big data in research

NEK1 regulates the membrane of the mitochondrion, which supplies energy to neurons and the repairing of DNA. Disruption of each of these cellular functions through other means has been linked to increased risk of ALS.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” said Lucie Bruijn, who works with the association.

“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.”

This wasn’t the only instance where the Ice Bucket Challenge benefitted communities with this neurological disorder as, last year, it was revealed that the Irish Motor Neuron Disease Association (IMNDA) raised €1.6m from the viral phenomenon. As a result, €600,000 was put directly into research funding with a further €800,000 put into supporting registrations and specialist equipment.

Also this week, an international research team including Trinity College Dublin researchers discovered three genes associated with motor neurone disease: C21orf2, MOBP and SCFD1.

Ice bucket image via Shutterstock

Colm Gorey was a senior journalist with Silicon Republic