Dad Sequences Daughter's Genome To Pinpoint Her Rare Syndrome
DNA National Institutes of Health The extreme possibilities of personalized medicine Dads all have their talents. Mine was a whiz at fixing mechanical toys, such my orange, flower-printed, wind-up owl. Bea Reinhoff's dad trained as a geneticist in the 1980s, although he ultimately chose to leave medicine in order to fund biotech startups. But when Bea was born with some unusual symptoms and no clear diagnosis, Hugh Reinhoff returned to genetics again. He bought $2,000 worth of equipment and sequenced Bea's genome at home, Nature reported in 2007. At the time, nobody had ever used genome sequencing to pinpoint the cause of a disease in a single person. Now, Bea is 9, and Hugh will soon publish a paper about the mutation he found in Bea's genome that may be behind her symptoms, which include widely-spaced eyes, a forked uvula and an inability to put on muscle mass, Nature reported today. Bea...