Rienhoff IDs Genetic Source of Daughter's Illness

October 22, 2012 | Hugh Rienhoff has found the gene responsible for his daughter's extremely rare condition. Bea Rienhoff's condition stumped doctors and led her father on his own quest in 2007 (see, Hugh Rienhoff's Voyage Round His Daughter's DNA). In 2010, Rienhoff identified a point mutation in the gene for copine-1. He explained his process and findings to Bio-IT World (see, Hugh Rienhoff Cops a Candidate Gene in His Daughter's DNA). Then, he wasn't willing to pin full responsibility on the gene. “Obviously I can’t say that [this gene] is it. That would be ridiculous, and I’d be stoned by the genetics community if I made such a statement. Nevertheless, I think it is a strong candidate.” At an Open Science Summitt on Saturday, however, he was more bold. "We found it. We found the gene," he said. "It's very satisfying." (see, Open-source science helps San Carlos father's genetic quest at SiliconValley.com).