Lilly Grossman had been suffering from painful muscle twitches that would wake her up multiple times a night, preventing both her and her parents from sleeping soundly for the past 13 years, writes Ed Yong at Not Exactly Rocket Science. After participating in Sarah and Eric Topol's Idiopathic Diseases of Man, or IDIOM, study — as part of which Lilly and her parents had both their genomes and exomes sequenced — researchers found mutations in two of Lilly's genes. "The team suspects that ADCY5 accounts for Lilly's shaking, while DOCK3 influences her balance and muscle weakness. It seems that she was born with extraordinary bad luck—a double-whammy of fresh mutations in two separate genes that conspired to produce her unique constellation of problems," Yong writes.
This did, though, suggest a possible treatment, and while that treatment hasn't been a cure, the frequency and severity of Lilly's tremors have lessened, Yong notes. "Treatments aren't going to be instantaneous or 100 percent, but they're hope," Steve Grossman, Lilly's father, tells Yong. "We gained hope. And the more data we have, the better position we'll be in to figure this out."