‘Dad decided to dig into his sick girl’s genetic code and find the answer himself’

A heroic dad–let’s hope he is able to solve the mystery and help his little girl. From DIY DNA: One Father’s Attempt to Hack His Daughter’s Genetic Code (Wired Magazine, 1/19/09):

[S]erious health problems have vexed Beatrice during her brief life.
She was born with a rare genetic disorder, and at one point the Rienhoffs feared she might never walk, let alone run and skip. Physical therapy has helped tremendously, but even today Beatrice struggles to climb stairs, and her muscles remain alarmingly frail. Hugh also has good reason to worry about her heart–the disease could dilate the aorta, with fatal results. Nobody can say for sure what lies ahead for Beatrice, because no one really knows what’s wrong with her. Hugh has taken her to see some of the nation’s finest medical experts in hopes of finding a diagnosis, but the doctors have all been baffled by the girl’s strange array of symptoms. This has left her in a sort of diagnostic purgatory, making her illness all the more fearsome and traumatic. 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.

Read the full story here–thanks to Matthew, a reader, for sending it.

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