The Legacy of the ALS Ice Bucket Challenge


Funds from social media phenomenon leads to breakthrough discovery in amyotrophic lateral sclerosis (ALS).

The amyotrophic lateral sclerosis (ALS) Ice Bucket Challenge that went viral on social media in the summer of 2014 helped fund an important research breakthrough in identifying the gene NEK1, which is associated with the disease.

From August through mid-September 2014, the global social media phenomenon generated a total of $115 million for the ALS Association, and more than 17 million people uploaded their challenge videos to Facebook, according to The ALS Association.

Of the $115 million, 67% was dedicated to advancing research for treatments and to find a cure, CNN reported. Part of the money was used to fund Project MinE, an international effort to sequence the genomes of at least 15,000 ALS patients.

In the US arm of the study, more than 80 researchers in 11 countries were involved, making it the largest study ever of familial ALS. After embarking on a genome-wide search for ALS risk genes in more than 1000 ALS families, researchers were able to identify the groundbreaking new gene NEK1.

Researchers from the University of Massachusetts Medical School analyzed more than 13,000 sporadic ALS individuals compared with controls, which showed the overrepresentation of variants in the same gene. NEK1 is known to play several different roles in neurons, including the maintenance of the cytoskeleton, regulating the mitochondrion membrane, and repairing DNA.

Researchers predict the variations found in the gene sequence lead to the loss of function in the gene, and the disruption of each of these functions was linked to an increased risk of developing ALS.

“I think that the discovery of the NEK1 gene is one of the most exciting things that’s happened in the last couple of years, especially because it really is a direct result of the ice bucket challenge,” said Jim Pinciotti, executive director at the ALS Association Greater Philadelphia Chapter. “There’s been a lot of conversation about the ice bucket challenge ever since it happened in 2014, and this is just one more wonderful result that has come out of that unbelievable event.”

Since its discovery, NEK1 has been ranked among the most common genes that contribute to the disease, and will provide scientists with another potential target for therapy development, the ALS Association wrote in a press release. Variations in the gene are present in approximately 3% of all cases of ALS in North American and European populations.

“This is among the top 5 most common genes that have been discovered so far,” Pinciotti said. “There have actually been 3 genes discovered since the ice bucket challenge, and this happens to be the most prolific; the one that impacts the most people with ALS.”

The 2 other genes identified are called TUBA4A and TBK1.

“What I know is that we now have a target to shoot at, to aim at,” Pinciotti said. “There are a couple of labs already working on some other genes that have been found to create what they call an antisense therapy, which in my colloquial term basically means to turn off the mutation or stop the mutation. There are at least 2 or 3 labs that are working on that right now, and this is just one more that will go into the mix.”

Although the new findings have sparked excitement among the ALS community, there are some who are disappointed upon learning that the gene is only found in 3% of ALS cases. However, the road to finding a cure for ALS is a long one, and the hope of finding a single cure for the disease is unrealistic because of the many different causes and forms of ALS.

“Every discovery is one more step along the path to a treatment and a cure,” Pinciotti said. “I wish that we could find a single magic bullet, and I think everyone whose involved in the fight against ALS feels the same way. But the reality is it’s a very complex disease, as are most neurological diseases, and every step that we can take is an extremely positive thing.”

In 1995, the FDA approved the only drug on the market today for ALS patients, riluzole (Rilutek). Since the approval, there have been no other drugs that have entered the marketplace, leaving little to no treatment options for these patients.

“There really is nothing else. Everything else is really palliative care and symptom management,” Pinciotti said. “We’ve made a lot of strides in that too, which is great, but additional effective therapies and additional biomarkers are still needed so that we can actually diagnose the disease quicker and so we can have good markers for the effectiveness of therapies in these trials.

“There is more ALS research and more ALS discoveries going on right now than in any time in the history of man. What that means to me, and this is personal, is that we’re getting closer. What I’m hoping, what we’re all hoping, is that we will come up with an effective therapy that will help slow the progression, and give us even more opportunity to find a cure.”

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