ALS Ice Bucket Challenge leads to major gene discovery progress
This is the biggest genetic ALS study that has ever been conducted. Thanks to the new research, NEK1 is included in the list of the most common genes that are responsible for ALS. This will give scientists a major target for their therapy development programs.
ALS, a progressive neurodegenerative disease, damages nerve cells based in the spinal cord and brain. People who have ALS gradually lose all muscle movement, leading to paralysis and eventual death. This happens between two and five years after the patients receive their diagnoses. As of today, there is no cure for the disease.
The study involved contributions from more than 80 scientists based in 11 countries. Study leaders were Dr. John Landers from the University of Massachusetts Medical School in Massachusetts and Dr. Jan Veldink from the University Medical Center Utrecht, Netherlands.
“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” Dr. Lucie Bruijn said. “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 The ALS Association 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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