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How the ALS Ice Bucket Challenge led to the discovery of a new gene

Cast your mind back two years to the summer of 2014 and you may remember the ‘Ice Bucket Challenge’ where people were nominated to douse themselves in icy water in support of the ALS Association charity. What started off as a small campaign soon went viral as people filmed their part in the challenge for posting on social media. Even celebrities decided to get involved, with Mark Zuckerberg, Bill Gates, Lewis Hamilton and Tom Cruise joining in the fun.

However, rather than being just a publicity stunt, money raised by this campaign has helped researchers to discover a new gene associated with ALS. Of the $100m raised, $1 million was given to Project MinE, which aimed to sequence the genomes of almost 15,000 people with the disease. This study led to the discovery of a new gene associated with ALS, known as NEK1. This gene is known to have multiple roles within the neurons, from maintaining the neuron’s cytoskeleton to regulating the membrane of the mitochondrion, and is now seen as one of the most common genes that contribute to ALS. The discovery of this new gene means that researchers have another piece of the puzzle to help them develop effective therapies and treatments.
ALS or to give it its full name, amyotrophic Lateral Sclerosis is also known as Lou Gehrig’s Disease. It’s a neurological disease which affects the nerve cells in the brain and spinal cord leading to paralysis and ultimately, death. Almost 10% of ALS cases are familial, which means that the genes are inherited. However, while the other 90% of cases are not familial, it’s likely that genetics contribute either directly or indirectly to many cases of ALS.
The discovery of this new gene has highlighted how ‘big data’ research can help us to move forward with finding new treatments. By using a sophisticated gene analysis technique the researchers were able to isolate the gene responsible. This was only possible because of the availability of such a large number of samples.
The money raised by the charity’s Ice Bucket Challenge was a big contributing factor to the success of the project. As $2000 is needed to sequence one person’s whole genome, the $1 million donation from the charity enabled Project MinE to store and sequence the large numbers of ALS samples needed for this kind of research, and involved over 80 researchers from 11 countries.

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