During the summer of 2014, the Ice Bucket Challenge was ubiquitous on social media. The fundraising challenge for amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease, raised $115 million in the eight-week period. Now, research funded by the phenomena has led to a new discovery.
The ALS Association contributed $1 million to Project MinE, to launch the U.S. branch of the 15-country collaboration to sequence the entire genome of 15,000 ALS patients and 7,500 individuals without ALS. FoxNews.com reported on the project in 2015; their goal is to find as many genetic factors that contribute to ALS, also known as Lou Gehrig’s disease, as possible, to then identify potential targets for therapy.
In a study released on Monday, Project MinE revealed they found a significant association between loss-of-function NEK1 variants and risk of familial ALS. NEK1 maintains neuron cyberskeletons, among its many roles in neurons, according to the Rare Disease Foundation.
Familial ALS accounts for only 10 percent of cases, but the finding of the NEK1 variants may aid in treatment, or at least understanding of both familial and sporadic ALS, Rare Disease Report reported.
ALS affects 4 to 8 per 100,000 people and approximately 5,000 people are diagnosed in the U.S. every year.
“This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS,” Bernard Muller, one of Project MinE’s initiators and an ALS patient, said in a news release. “I’m incredibly pleased with the discovery of the NEK1 gene adding another step towards our ultimate goal, eradicating this disease from the face of the earth."