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National Geographic: 'We Gained Hope.' The Story of Lilly Grossman's Genome
Submitted by J.W. Bizzaro; posted on Thursday, March 14, 2013
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In this article about personal genome sequencing, Ed Yong (flavors.me/edyong) describes the effort to find a treatment for a young girl's mysterious health condition:
"This U-turn in Lilly's fortunes was the result of a study called IDIOM, led by the father-and-daughter team of Eric and Sarah Topol at the Scripps Translational Science Institute in La Jolla, California. IDIOM stands for Idiopathic Diseases of Man – that is, 'serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments'. In other words, whatever Lilly had.
"The Scripps team sequenced Lilly, Steve and Gay's complete genomes. Amidst the morass of As, Gs, Cs and Ts, they identified the likely causes of Lilly's mystery condition – three mutations in two different genes. One of these pointed the way to a potential treatment – a drug called Diamox that had helped another family with a fault in one of the same genes. When Lilly tried it, she gained a few weeks of sound tremor-free sleep."
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