Open-source science helps father's genetic quest

"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." Born with small, weak muscles, long feet and curled fingers, Beatrice confounded all the experts. No one else in her family had such a syndrome. In fact, apparently no one else in the world did either. Rienhoff - a biotech consultant trained in math, medicine and genetics at Harvard, Johns Hopkins and the Fred Hutchinson Cancer Research Center in Seattle - launched a search. He combed the publicly available medical literature, researching diseases, while jotting down each new clue or theory. Because her ailment is so rare, he knew no big labs or advocacy groups would be interested. He did some of his own lab work in his San Carlos, Calif., home, borrowing tools or buying them used online. A few commercial labs, like the San Diego-based biotech Illumina, offered him help for free. And a wide array of pediatricians, geneticists and neurologists volunteered their opinions. Over time, he zeroed in on a stretch of genes that control a growth hormone responsible for muscle cell size and number. And he knew he could further target his search - saving time and money by not sequencing Bea's entire genome, but only the exomes, which are the genes that code for proteins. Eventually, he needed to interpret all that genetic data. For that, he turned to a public genetic reference library, stored on the University of California-Santa Cruz computers."