Good news is rare when talking about a disease as grave as amyotrophic lateral sclerosis (ALS). But a recent study—funded through donations received from the ALS Ice Bucket Challenge—has identified a gene thought to contribute to the degenerative disease, sparking hope for new treatments and, eventually, a cure.
ALS—also sometimes called Lou Gehrig’s Disease and/or Motor Neuron Disease—effects nerve cells in the brain and spinal cord, leading to total paralysis and, ultimately, death, usually within two to five years of diagnosis. There are two types: familial ALS, which is inherited and accounts for about 10 percent of cases, and sporadic ALS, which comprises the other 90 percent of diagnoses.
This study—the largest ever conducted on familial ALS—analyzed genetic material from 1,000 families in which a family member developed ALS. What researchers found is that variants in a gene dubbed NEK1 are common in people who develop the disease. It is hoped that the discovery will lead to the creation of new drug therapies for those with either form of ALS.
The study was supported by the ALS Association through donations accrued from the ALS Ice Bucket Challenge, which went viral in 2014 and saw everyone from former Presidents to adorably foul-mouthed little British girls dumping buckets of cold water over their heads to raise money and awareness for the cause. We even got in on it ourselves.
The campaign raised more than $115 million for the ALS Association, which devoted about two-thirds of that to research, including this study. The remaining funds went to patient and community services, public and professional education, further fundraising, and payment processing fees.
Though the ALS Association was the primary beneficiary of the Ice Bucket Challenge campaign, other organizations benefited, too, including Baltimore’s own Brigance Brigade. Founded by former Raven O.J. Brigance—who was diagnosed with ALS in 2007 and who we profiled in August 2014 at the height of the Ice Bucket Challenge frenzy—the nonprofit Brigance Brigade equips, encourages, and empowers people living with ALS, raising money through donations and annual events such as this October’s Soirée with O.J.
Brigance cheers the announcement of the NEK1 discovery, telling Baltimore, “It is extremely encouraging that the NEK1 gene has been discovered, which could lead to other developmental therapies to cure ALS. The tremendous generosity of millions of Americans during the Ice Bucket Challenge continues to reap benefits for the ALS community. We are closer to a cure, but still not there yet.”