
The DIY Scientist, the Olympian, and the Mutated Gene - rberger
https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation
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skosuri
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-](http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-)

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

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pasbesoin
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...](http://www.thisamericanlife.org/radio-
archives/episode/577/something-only-i-can-see)

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wilsonfiifi
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
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.

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

