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Someone Who Knows What You're Going Through

A few years ago, Lilly Grossman took part in the Idiopathic Diseases of Man, or IDIOM, study led by Sarah and Eric Topol. Through the study, researchers found that her genome harbored two variants, in ADCY5 and in DOCK3, that seemed to be behind her painful muscle twitches. Not only has sequencing pointed to a treatment approach, it's also led to the development of a community of people affected by ADCY5 mutations, Ed Yong now writes at The Atlantic.

"Lilly's case has acted as a magnet for others with the same mutation," he says. "Families with the same problem read about Lilly's case and contacted the Grossmans. Doctors and geneticists looked at their own patients and saw a new explanation behind puzzling symptoms." Similar situations, he notes, are occurring in other rare diseases.

The Grossmans, Yong says, have been in touch with other affected families the world over, and put on a get-together for patients and researchers during an international conference on movement disorders. Lilly and her parents also Skype with other families, reassuring them.

"The best feeling is seeing these tiny little kids and thinking: They're not going to have to go through all this," says Gay Grossman, Lilly's mom. "These mothers and fathers are young, and they have 2-year-olds. We're 16 years ahead. They're not going to have to go through nerve biopsies and muscle biopsies and MRIs and all these things we put Lilly through."

The Scan

Hormone-Based Gene Therapy to Sterilize Domestic Cat

A new paper in Nature Communication suggests that gene therapy could be a safer alternative to spaying domestic cats.

Active Lifestyle Linked to Type 2 Diabetes Prevention in People at High Genetic Risk

A study in the British Journal of Sports Medicine shows that an active lifestyle goes a long way in type 2 diabetes prevention.

Beneficial, Harmful Effects of Introgression Between Wild and Domesticated European Grapes

A paper in PNAS shows that European wild grapevines were an important resource for improving the flavor of cultivated wine grapes.

Genetic Ancestry of South America's Indigenous Mapuche Traced

Researchers in Current Biology analyzed genome-wide data from more than five dozen Mapuche individuals to better understand their genetic history.