Genome sequencing has revolutionized treatment of rare disorders

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The last two years have been a whirlwind of good news for Lilly Grossman. She graduated high school and successfully applied for college, where she’ll be majoring in English. She went to her prom and was crowned homecoming queen. She edited her school newspaper. She even visited the White House and met Barack Obama. But the two most important aspects of Lilly’s recent life seem far more mundane to other people. She has been sleeping. And she has been planning for a future that, for the longest time, her parents doubted she would have.

Ever since she was a small child, Lilly’s body has been wracked by painful and relentless muscle tremors. At first, they only happened at night, robbing her and her parents of anything but the most fleeting stretches of sleep. Then, they crept into the daylight hours, leaving her with muscle weakness and balance problems, and making her dependent on walkers or wheelchairs.

No one knew what was wrong. Then, everything changed when the family learned about a study called IDIOM, led by Eric and Sarah Topol at the Scripps Translational Science Institute. IDIOM was an attempt to diagnose people with “serious, rare and perplexing health conditions” by sequencing their entire genomes and uncovering the faulty genes that presumably lay behind their problems. Lilly fit the bill perfectly. She became the first IDIOM volunteer — and its most successful by far.

Read full, original post: How Genome Sequencing Creates Communities Around Rare Disorders

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