Do-it-yourself DNA Analysis

Five-year-old Beatrice Rienhoff suffers from a rare genetic disorder that leaves her with very little muscle mass and a range of medical problems. Doctors don’t know exactly what’s wrong, nor how to help her.

Families facing this kind of medical uncertainty are often paralyzed by their distress. But rather than give in to his anguish, Hugh Rienhoff made an extraordinary decision: He would dig into Beatrice’s genetic code and find the answer himself. A biotechnology consultant by day, Rienhoff has been an avid student of clinical genetics since he earned his medical degree nearly 30 years ago. Now he has used this expertise to transform his Bay Area home into a makeshift genetics lab. Surrounded by his children’s artwork and bookshelves loaded with his wife’s political literature, Rienhoff set about sequencing a number of Beatrice’s genes, preparing samples using secondhand equipment and turning to public databases to interpret the results. On the desk in his attic workspace are a pair of white binders stuffed with charts detailing 20,000 of Beatrice’s base pairs; the data for nearly 1 billion can be accessed from a nearby PC. Whenever he has a spare moment, Rienhoff sequesters himself in this cluttered, carpeted room and sifts through his daughter’s DNA, one nucleotide at a time. He is hunting for the single genetic quirk responsible for Beatrice’s woes—an adenine in place of a guanine, perhaps, or an extra cytosine in a key location. If he can find the culprit, he figures, maybe he can find a treatment, too.

Reinhoff’s research hasn’t cracked the mystery yet, but he has found a treatment that helps his daughter somewhat. Along the way, he also became an advocate for other parents who are looking for answers to their children’s baffling conditions. Link

(image credit: Ye Rin Mok)