Shutting up and doing the impossible: Leslie Gordon

[Eneasz]

Progeria is an extremely rare condition, 15 years ago almost nothing was known about it. Then Leslie Gordon and Scott Berns, both physicians, had a son who was diagnosed with it at 2 years old. They were able to find the cause, isolate the genes responsible, and adapt a drug to combat many of the more fatal symptoms. They had help, and luck. But they are doing the impossible.

http://​​www.npr.org/​​blogs/​​health/​​2012/​​09/​​25/​​161691083/​​experimental-drug-is-first-to-help-kids-with-premature-aging-disease

Bonus: the drug may help slow aging in healthy humans as well.

Also: this has been mentioned on LW before, but without the awesome Do The Impossible narrative. I blame the BBC.

[Shmi]

Bonus: the drug may help slow aging in health humans as well.

Yet no “rational” person would donate to a Progeria foundation because of the low incidence (1:8 million) , given that it falls under the “rare diseases in cute pup… err, children” category.

[[deleted]]

Black swans ruin everything.

[gwern]

Let’s count our black swans when they actually hatch… There are many ways to induce aging artificially and then fix it without affecting regular aging, just like there are many ways to cripple your mental performance and then ameliorate the damage without producing a useful nootropic.

(Besides that, progeria has been justified by its benefits in understanding serious issues which are compelling to a ‘”rational” person’ - like everyone else’s aging. Just google ‘progeria “normal aging”’!)

[Mitchell_Porter]

How often do people try to do the impossible, and fail? We need examples of that, too, for context.

[ewang]

The most obvious examples I can think of are the countless amateur mathematicians that tried to square the circle.

[Oscar_Cunningham]

I don’t at all see why this is relevant to LessWrong, but for the sake of doing things properly here’s a link to the actual paper.

Note in particular that:

We chose a single-arm study design. First, HGPS, although genetically uniform, has wide range of clinical severity at any given age. There is no validated disease severity score, and age matching would not be an effective way to pair cases vs. controls. Additionally, our pretrial clinical data on rate of weight gain showed that, although interpatient rates of weight gain vary widely, intrapatient rates are extremely consistent after age 2 y (13). Thus, each child served as his or her own control for the primary outcome measure, and this consistency lent itself well to a single-arm design. Finally, given the 100% mortality rate in HGPS, we designed a trial that would allow all patients to receive potential therapy.

So the results could just be due to the placebo effect. Not that there’s anything wrong with using this format for an exploratory trial, just that it’s only a small amount of evidence. Especially given that they only had 25 participants (a quarter of the worldwide population of sufferers!).

Bonus: the drug may help slow aging in healthy humans as well.

Where did you get that idea from?