Open-Source Science Helps Father's Genetic Quest

One tiny flaw in one gene in one little girl. That explains why Beatrice Rienhoff, 8, is so lean and leggy.

But it took the communal contributions of many researchers - in an open-ended, open-source scientific search, led by her father - to solve Bea's singular mystery. Most medical research is secret and proprietary. At Saturday's Open Science Summit in Mountain View, Calif., however, Bea's father, Hugh, described a needle-in-a-haystack quest made possible by the pitchforks of so many.

"We used materials that are public, freely available," said Rienhoff, a physician and scientist, as Beatrice frolicked nearby. "And everything we've learned we've put back out there, in the public domain. It's for the patient's good, and the public good." 

...Rienhoff's tale of searching and sharing genetic information is one just one facet of the so-called "Open Science" movement. At the conference, held at the Computer History Museum, other speakers - from efforts such as Figshare, Collaborative Drug Discovery, Ayaski, the Personal Genome Project and Syapse - described how they enlist big public databases to do pharmaceutical and genomic research...