The DIY Scientist, the Olympian, and the Mutated Gene

https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation

by rberger • 11 years ago

43 5 11 years ago

skosuri• 11 years ago

I found this article to be fascinating. It reminds me of a few other rare disease stories, like those of Matt Might's [1, 2].

[1] http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-

[2] http://matt.might.net/articles/my-sons-killer/

pasbesoin• 11 years ago

Heard a lengthy segment on this on this week's "This American Life."

Their site says it will be up for listening online at 7pm CST. If online distribution still works as it did some time ago, it will be available for free for a week (for some nominal amount, thereafter).

http://www.thisamericanlife.org/radio-archives/episode/577/s...

wilsonfiifi2• 11 years ago

This has been a great read! It seems to me that clinical medicine and medical research is in need of some serious computing power to help sift through all the data and come up better diagnosis and treatment of common or rare diseases.

Actually does anyone here know which field in CS deals with this sort of thing? And what study/learning path one would have to follow to make meaningful contributions?

dikdik• 11 years ago

Bioinformatics with extensive understanding of molecular biology. The reality is, you will have a hell of a time getting anyone to loan you tools for meaningful contribution without a PhD.

wilsonfiifi2• 11 years ago

Bioinformatics. Thanks! Now that I have a name I can do further 'googling'.

The DIY Scientist, the Olympian, and the Mutated Gene

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