A rare disease is a natural experiment in human biology. A tiny alteration to a single gene can produce a radically different outcome—which, in turn, can shed light on how the body works in normal conditions.
After I die and reborn to live a life of Space and be done with that, I will die and reborn to live a life as a Geneticist and clearly before anything, I would have to find proper dev tools first, we shouldn't take 20/30 years to find causes and who knows how many more to find fixes, if we're to move forward clearly the tool set needs to improve.
Read more at ever awesome The Atlantic: The Girl Who Turned to Bone. Also, more on "Stone Man Syndrome" over at wikipedia