Fundraising leads to breakthrough in ALS research

Scientists have discovered one of the most common genes in patients with ALS, also known as Lou Gehrig’s disease, and the Ice Bucket Challenge that became a viral phenomenon two years ago is credited with facilitating what medical experts are considering a key step toward finding a cure.

For the family of Pete Frates, the former Boston College baseball player and a co-founder of the Ice Bucket Challenge, it is “a bittersweet announcement.” Frates, 31, who was diagnosed with ALS (amyotrophic lateral sclerosis) in 2012, is being treated for infections at a large Boston hospital, his father John said Wednesday.

“This news is everything we hoped and wished and prayed for,” John Frates said, “but the cruelty of the disease continues, and Pete’s in the hospital now fighting multiple infections, as is the case with a lot of ALS patients. We live in the high and low space at all times.

“Kudos to everyone who’s ever supported Pete and this cause, because we’ve all earned this moment. … It’s exactly the way it was supposed to have worked.”

Variations in a gene called NEK1, with multiple functions in neurons, are present in approximately three percent of all cases of ALS in North American and European populations, both sporadic and familial, according to a paper published in Nature Genetics.

Led by John Landers, Ph.D., professor of neurology at UMass Medical School, and Jan Veldink, Ph.D., at University Medical Center Utrecht in the Netherlands, the research was supported by The ALS Association through Project MinE, an international collaboration for gene discovery in ALS, and funded through ALS Ice Bucket Challenge donations.

“This study was only possible because of the collaboration of all of the scientists involved,” Landers said. “It is a prime example of the success that can come from the combined efforts of so many people, all dedicated to finding the causes of ALS. This kind of collaborative study is, more and more, where the field is headed.”

The Ice Bucket Challenge raised more than $100 million in contributions for the ALS Association, which contributed $1 million to the Project MinE research project. Major League Baseball, which was influenced by ALS most notably when Gehrig’s life was cut short by the disease, involved all departments and clubs in the cause two summers ago, and fundraising efforts have continued ever since.

The Ice Bucket Challenge was started by Frates and his friend, Pat Quinn (diagnosed with ALS in 2013). Frates had ice water dumped over his head on the outfield at Fenway Park, and others soon followed what became a tradition to bring awareness to ALS. After the ice bucket was dumped, that person or group then would challenge three others to do the same.

Last August, in honor of Gehrig, …

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