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Fundraising leads to breakthrough in ALS research

Scientists credit Ice Bucket Challenge with facilitating gene discovery
July 27, 2016

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

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, Frates and Quinn, MLB made another $100,000 donation to ALS and kept the Ice Bucket Challenge going.

"As the sport of Lou Gehrig, Baseball's longstanding participation in the fight against ALS dates back to 1939," MLB Commissioner Rob Manfred said. "Pat and Pete are passionate baseball fans, and in memory of Lou Gehrig, MLB and its clubs are honored to support their vision."
"It's so surreal, because it's exactly how a championship ballclub is built," John Frates said. "You have a plan, you execute the plan, and then when the plan comes together after a lot of trials and tribulations, you get into the playoffs or even hoist the trophy. This is everything we hoped and dreamed for.
"Now, is it the absolute breakthrough and cure? I don't think so. But to hear that there's a direct impact and effect of Pete's efforts to raise consciousness and awareness to this horrific disease that's named for the great ballplayer, Lou Gehrig, for us, it's textbook stuff. It led to the research funding, and then treatment and an eventual cure will come from this."

On Sunday, Pete Frates tweeted: "oh ya, for the worrywarts out there, never forget how effn tuff i am." John Frates asks that people continue to donate for the cause.
"We just try and stay in the moment," John Frates said. "Even when we were going through the Ice Bucket Challenge, we would go day to day. That was a joyous time in our life. Now, truly it's moment to moment, because we can get a call or text that it's good news or bad news, and we just try and stay in the moment to what we have to deal with."
The study involved contributions from more than 80 researchers in 11 countries, and it was the largest study of familial ALS.
"The discovery of NEK1 highlights the value of big data in ALS research," said Lucie Bruijn, Ph.D., MBA, of The ALS Association. "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."
Dorine Gordon, president of the Greater ALS Association New York chapter, which has scheduled its 22nd annual Lou Gehrig Sports Awards Benefit dinner for Nov. 3, to fund ALS research, called the news "another piece to the puzzle in helping us to understand ALS."
"Our scientists tell us that genes are targets for drugs, and that's why this is important," Gordon said. "It gives us a target to develop drugs to treat ALS -- something that could slow down the progression, stop it or possibly even reverse it. So that's why this is so exciting."
At the 21st annual Lou Gehrig Sports Award Benefit dinner last November, which raised another $1.4 million for the ALS Association Greater New York Chapter, former outfielder Paul O'Neill summed up the feelings of many in the baseball -- and ALS -- community:
"This is one of those diseases that you feel if you can raise enough funds, soon this is going to be taken care of," O'Neill said. "When you sit down and talk to people who have this disease, you see how devastating it is. Things are done here in New York because Lou Gehrig's name is put with this disease. But with so many things happening in medicine, you just feel that if you raise enough funds, someday this will be gone."
ALS is a progressive neurodegenerative disease that affects neurons in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis.
While 10 percent of ALS is familial, meaning it's genetic, the other 90 percent of ALS cases are considered sporadic, or without a family history. However, it's very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases.
The ALS Association announced funding for Project MinE, an international effort to sequence the genomes of at least 15,000 people with ALS, in October 2014, which established the U.S. arm of the initiative with Dr. Landers' research efforts. Project MinE was the brainchild of entrepreneur Bernard Muller, and Robbert Jan Stuit, both of whom have ALS.
The new NEK1 gene was discovered through a genome-wide search for ALS risk genes in more than 1,000 ALS families, and it was independently found through different means in an isolated population in the Netherlands.
NEK1 is known to have multiple roles in neurons, including maintenance of the cytoskeleton that gives the neuron its shape and promotes transport within the neuron. In addition, NEK1 has roles in regulating the membrane of the mitochondrion, which supplies energy to neurons, and in repairing DNA. Disruption of each of these functions through other means has been linked to increased risk of ALS.

Mark Newman is enterprise editor of Read and join other baseball fans on his community blog.