My dad also died of ALS last year. Identifying the cellular mechanisms underlying ALS is crucial. At the same time I'm disheartened by the conclusion of the researchers that this will pave the way to the development of drugs. Why is that always the first solution we turn to? So ubiquilin2 is unable to repair damaged proteins in people with ALS. The question is, why? I can't help but believe ALS is an autoimmune disea…
But we must put our strategist hats on, and think strategically.
Sure, perhaps ALS has an environmental trigger. How shall we look for it? ALS is a rare disease. There are 5600 new cases of ALS in the USA every year, out of 307 million Americans. This implies, very roughly speaking, that in a study group of 50,000 people, one person will get diagnosed with ALS every year on average. So doing a prospective study of ALS patients is going to be astonishingly expensive: You'll need to sign up hundreds of thousands of subjects, then follow them for years, to get any meaningful number of actual cases among your study participants.
The alternative is to carefully quiz ALS patients and their families after diagnosis and see if they all tend to report similar, distinct, unusual patterns in their earlier lifestyles. But self-reporting is a lousy way to look for subtle effects, especially when the sample size is necessarily small. People have spent decades trying to positively identify environmental triggers for much more common conditions, often with little result.
So if we must identify and eliminate an environmental factor before we can reduce the incidence of ALS, we probably won't reduce the incidence of ALS anytime soon. Trying to improve or extend the lives of ALS patients post-diagnosis is, perhaps, a more tractable strategy. We know exactly who to run the tests on. And I imagine that ALS patients are among the most eager volunteers for experimental treatments.