Study gets docs one step closer to dousing ALS
Frates’ Ice Bucket Challenge paying dividends
A team led by a University of Massachusetts Medical School researcher has discovered yet another gene associated with ALS — a development that will likely help scientists find more ways to treat the degenerative disease.
“As we find more genes, we can start to dissect out what’s going wrong in ALS patients,” said John Landers of U-Mass Medical School, who led the recent study. “That will help determine how we can develop drug therapies.”
The study — funded largely by money generated from the Ice Bucket Challenge, inspired by former Boston College baseball standout Pete Frates — was published yesterday in neuroscience journal Neuron and was carried out by more than 250 researchers. The scientists used genetic data from more than 101,000 samples.
The group identified the KIF5A gene, which they say is responsible for a type of early onset ALS. Illness caused by this gene usually begins around the age of 46, whereas other types generally hit people in their 50s or 60s.
Though it starts early, there is also a 10-year survival rate — much longer than the standard two to three years.
The Ice Bucket Challenge raised over $115 million for the ALS Association, and significantly accelerated research. KIF5A is the fifth ALS gene that has been discovered since the 2014 viral sensation that swept the internet.
Over 25 ALS genes have been discovered so far in total.
The most recent discovery has three major implications, said Dr. Bryan Traynor, who led the effort with Landers.
First, it provides another way to test for the illness, which is generally difficult to diagnose.
“If we’re actually able to sequence that gene, it gives us greater certainty,” Traynor said.
It also lends itself to cutting-edge gene therapies that could someday be used to treat the illness. As of now, there is no cure.
Traynor also said the discovery of multiple genes that cause different variations of the disease show that “ALS is a group of syndromes,” not just one.
ALS, also known as Lou Gehrig’s disease, is a fatal illness that affects the nervous system and weakens muscles. There are two new cases per 100,000 people in the United States each year.