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Ice bucket challenge bears fruit for amyotrophic lateral sclerosis

Hrastelj, James ORCID: and Robertson, Neil ORCID: 2016. Ice bucket challenge bears fruit for amyotrophic lateral sclerosis. Journal of Neurology 263 (11) , 2355. 10.1007/s00415-016-8297-7

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In 2014, the ‘ice bucket challenge’ raised over $140 million worldwide for research into amyotrophic lateral sclerosis (ALS). This unprecedented boost to research funding is now beginning to deliver significant advances in our understanding of the pathogenesis of this devastating disease, and all the studies in this month’s journal club were, at least in part, funded by charitable organisations that benefited from these monies. The first paper we discuss reports the results of the largest genetic study of ALS to date, with discovery of three new genes associated with ALS by utilising novel whole-genome sequencing technology. Importantly, the study also illuminates the genetic architecture of ALS, which in turn is likely to inform design of future genetic studies and suggests opportunities for clinical research to establish genotype–phenotype correlations. However, as genetic studies of rapidly increasing power reveal increasing numbers of risk variants and mutations, the next substantial challenge is to understand how such variants cause disease. The second and third papers discussed this month report on attempts to understand how two leading ALS risk variants cause disease and may provide exciting avenues for the development of novel therapeutic agents. The association of the C9orf72 repeat expansion with ALS, reviewed in journal club in 2012 and 2015, is now well documented and Kramer et al. report notable progress in translating our understanding into novel therapeutic targets. Similarly, Ito et al. report that mutations in the established ALS risk gene optineurin may function by sensitising cells to a form of regulated cell death, which could again be targeted for therapeutic intervention.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Springer
ISSN: 0340-5354
Date of First Compliant Deposit: 10 November 2016
Date of Acceptance: 11 October 2016
Last Modified: 23 May 2023 16:53

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