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Ice-bucket challenge funds ALS gene discoveries

01 August 2016

By Jenny Sharpe

Appeared in BioNews 862

Donations from the ALS, amyotrophic lateral sclerosis, 'ice-bucket challenge' have funded research that has led to the discovery of new genes linked to the disease.

The ice-bucket challenge – in which people had buckets of iced water poured over their heads to raise money for charity – went viral on social media in the summer of 2014. Donations allowed the ALS Association to invest $1 million in Project MinE, a large-scale sequencing project that involved 11 countries and 80 researchers. It aims to identify all the genetic causes of ALS by mapping the genomes of at least 15,000 people with the disease. Two studies from the project, both published in Nature Genetics, have identified two new genes involved in ALS. 

Professor Ammar Al-Chalabi, one of the leading researchers working on Project MinE, said: 'By working together, ALS researchers across the world, patients and the public have successfully driven the discovery of these new ALS genes.'

ALS (also known as motor neurone disease) is a progressive neurological disorder in which the motor neurons that control muscle function degenerate and eventually die. Approximately 10 percent of ALS cases are inherited, but scientists believe that genetics contribute either directly or indirectly to a much larger percentage of cases.

The first study was a genome-wide association study and found a total of six genetic regions where variation appears to increase the risk of ALS. One of the regions included a novel gene called C21orf2, which plays a role in cilia formation and mitochondrial function.

The second study found that mutations in the NEK1 gene increased the risk of ALS. NEK1 is known to play multiple roles in neuron function, including DNA repair, mitochondrial membrane permeability and regulation of the cytoskeleton of nerve cells.

Although only associated with three percent of ALS cases, NEK1 was implicated in both sporadic and inherited forms of the disease, meaning it could be a new target for the development of possible treatments.

'The discovery of NEK1 highlights the value of big data in ALS research,' said Dr Lucie Bruijn, chief scientist at the ALS Association, who was not involved in the studies. 'The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available. The ALS ice-bucket challenge enabled [us] 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.'

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