Ice Bucket Challenge Aids in ALS Gene Discovery Breakthrough

Two years ago, people around the world dumped ice water over their head during the dog days of summer. They videotaped it, posted it online, and challenged their friends.

A viral sensation, it also carried a message. Pioneered by Boston College baseball director of operations Pete Frates, the Ice Bucket Challenge brought awareness of the progressive disease amyotrophic lateral sclerosis, or ALS, to millions of people.

When the summer finished, the Ice Bucket Challenge raised $115 million for a number of different projects. Building on that success, every summer now brings with it another Ice Bucket Challenge with the tagline, “Every August Until A Cure.”

As it turns out, that’s not just a motto. This week, scientists announced they discovered a new gene tied directly to ALS.

In a press release through the ALS Association and according to a paper in Nature Genetics, researchers from Project MinE’s global gene sequencing effort identified the gene NEK1. Ranking “among the most common genes that contribute to the disease,” NEK1 will now serve as a scientific target for therapy development.

The release singled out the Ice Bucket Challenge specifically as the reason why the ALS samples were available for study. Scientists used a genome-wide search for risk genes in over 1,000 families and over 13,000 “sporadic” individuals without genetic histories of the disease. NEK1 is known to have multiple roles in neurons, and it supplies energy to neurons and in repairing DNA. Disruption of those functions has been linked with increased risk of ALS.

Translation (though I could be totally wrong on this since I’m neither a scientist nor a medical professional): funding from the ALS Association, specifically from the Ice Bucket Challenge, gave scientists a much-needed breakthrough of a gene sequence that controls neurons. ALS is a progressive disease that gradually slows and eventually stops motor neuron function.

This is tremendous news in the fight to find a treatment for ALS. Ever since his diagnosis, Pete Frates has tirelessly fought to fund research and hopefully, one day eradicate what is commonly referred to as Lou Gehrig’s Disease. With Pete, the entire Boston College community has taken up that fight, raising both awareness and funding to help.

Whenever there’s a cause like this, there’s a tendency to have skepticism. When people dumped ice water on their heads, there was a criticism that people did it simply because it was the viral thing to do, a way to remain popular on social media. While that may have been true for some, there’s no questioning its impact in taking a relatively unknown disease out of the shadows and into the spotlight.

As August approaches, it’s a time, once again, to renew our fight as Boston College people. This is our fight just as much, if not more, than any other group of supporters. Pete is one of us, an Eagle with maroon and gold running through his blood. If it’s every August until a cure, then let’s try and make this one of the last Augusts needed.

During the baseball season, Mike Gambino once said, “We’re here so we don’t have to do ALS Games and raise ALS Awareness and money forever. We want this to become something of the past, so we can talk about it being something that used to happen to people.”

There is now tangible proof that we’re getting closer to that day. The fight isn’t over, but we’re getting closer. Pete’s fight remains our fight, and the toughest SOB any of us can ever follow is showing us exactly what’s coming next.

For further information on ALS as well as a chance to donate, visit the ALS Association’s website at alsa.org.