The DIY Scientist, the Olympian, and the Mutated Gene

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/

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...

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?