One day we'll have truly personalized medicine; your doctor will sequence your genome and prescribe a drug tailor-made for whatever ails you. Though this vision is still decades away, there are already a few people who are benefiting from it. Like this young woman, whose rare disorder was diagnosed after she got her genome sequenced.

For her whole life, Lilly Grossman has suffered a rare motor disorder that causes her to shake and twitch herself awake up to forty times every night. It's a debilitating condition and her parents were losing hope. Until they were given the opportunity to have their daughter's genome sequenced. Ed Yong has a fantastic story about Grossman's treatment over at Not Exactly Rocket Science. Writes Yong:


The Scripps team sequenced Lilly, [her parents] 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.

“Whole-genome sequencing can change lives and maybe save some,” says Steve. “It changed ours.” It was no miracle—the tremors have returned to a lesser extent than before, and the team are pursuing new leads. But Steve and Gay never expected The Answer. They didn’t anticipate an easy cure. Genomics gave them something arguably more important—hope. It turned the nameless, unknowable ailment that had stolen years of sleep from their daughter into something tangible—a condition with a cause that can eventually be addressed. And it bought them time with Lilly.

Though Grossman hasn't been cured, she now takes new medications which are far more effective than what she was taking before. As genomics improves, we're likely to see more cases like hers.

Read the whole story at Not Exactly Rocket Science


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