FLICKR, MICHELLE RIGGEN-RANSOMIn a search for amyotrophic lateral sclerosis (ALS) risk genes among affected families, an international team of more than 80 researchers has flagged loss-of-function variants of the NEK1 gene, which has been linked to diverse cellular functions, including DNA-damage responses, cytoskeleton stability, mitochondrial membrane function, and neuronal morphology. Known as Project MinE, the effort involved the analysis of more than 1,000 whole exomes from patients with familial ALS and more than 7,300 controls. The researchers published their results this week (July 25) in Nature Genetics.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” Lucie Bruijn of the ALS Association, which donated $1 million of the funds raised during the Ice Bucket Challenge to the project, told the Irish Examiner. “The ALS Ice Bucket Challenge enabled the ALS Association to invest in Project MinE’s work to create large biorepositories of ALS...