Looking for in-depth coverage of medical research?
A new report published in Science Magazine on Thursday shows serious progress in the search for a cause of ALS, and even some hope for finding a way to stop the horrible neurodegenerative disease. On Friday, in a Reddit AMA, Johns Hopkins medical researcher Jonathan Ling, who is one of the authors of the report, credited the Ice Bucket Challenge with funding the scientific work that brought them to this point.
The Ice Bucket Challenge, was, of course, that thing from last summer where people would video themselves having ice water dumped on their heads, and then nominate other people to have ice water dumped on their heads, all in the name of fundraising for research that would hopefully cure or treat amyotrophic lateral sclerosis, or ALS. ALS, is, of course, gradual weakening of all the muscles in an afflicted person's body until they become unable to function, and typically, die a torturous death after a few years.
Jumping on the pop-culture bandwagon and participating in what superficially seemed like a dumb meme was, it turns out, a pretty good idea. The ALS Association reportedly received $100 million in donations over the course of 30 days.
Related: That time VICE took the ice bucket challenge last year
So just what was discovered, and how was the Ice Bucket Challenge responsible? According to Ling, the new information could lead to clinical trials of a promising new treatment technique "2-3 years from now," a heartbreaking expanse of time for anyone who already has ALS, but still cause for cautious optimism.
Ling explained that the substance of the experiment focused on faults in TDP-43, a protein needed in the nucleus of cells—specifically neurons in the brains of ALS patients. Without TPD-43 keeping everything in order, proteins generated in the nucleus, the cell will, the experiment found, generate defective proteins known as cryptic exons. In Ling's analogy these exons are "nonsense pages" in the "book" of DNA.
In mouse stem cell experiments, after restoration of TPD-43, damaged and dying cells were shown to come "back to life," and "looked completely normal," Ling wrote.
He explained that he'd been troubled by pessimism he'd seen online, with participants in online communities complaining that all the publicity and donations appeared to have no help. He wrote that, "All of your donations have been amazingly helpful and we have been working tirelessly to find a cure."
Another user claiming to be an ALS researcher showed up in the thread to point out that the focus of the new study was somewhat narrow. There are other proteins whose "aggregation" seems to cause ALS, such as C9orf72. Stopping such proteins from aggregating, the researcher argued, would be a better approach. Ling pointed out the potential usefulness of the treatment that might result from this research, adding, "but you're absolutely right, it would be fantastic if we could stop it from aggregating in the first place."
However, Ling's overall tone was one of across-the-board positivity. "With the amount of money that the ice bucket challenge raised," he wrote, "I feel that there's a lot of hope and optimism now for real, meaningful therapies."
Follow Mike Pearl on Twitter.