The following is an edited excerpt.
Hugh Rienhoff says that his nine-year-old daughter, Bea, is “a fire cracker”, “a tomboy” and “a very sassy, impudent girl”. But in a forthcoming research paper, he uses rather different terms, describing features of a genetic syndrome that Rienhoff has obsessed over since soon after Bea’s birth in 2003.
Rienhoff, a biotech entrepreneur in San Carlos, California, bought lab equipment so that he could study his daughter’s DNA himself — and in the process, he became a symbol for the do-it-yourself biology movement, and a trailblazer in using DNA technologies to diagnose a rare disease.
Read the full story here: Father’s genetic quest pays off