Jake's Mice: Searching for Answers to the Puzzle of Autism

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Jake, a 16-year-old with autism, recently got the chance to meet the first mice in the world engineered to have the same genetic abnormality he has. The mice are engineered using Jake’s own blood as scientists seek answers to the larger puzzle of autism.

Jake’s family raised money for the early research, which scientists then parlayed into a $4 million grant from the National Institutes of Health to delve more deeply into Jake’s gene, one of more than 100 implicated in autism. They hope to find “points of convergence” that could someday help people with all forms of the neurodevelopmental condition affecting one in 44 U.S. children.

Around that time, the Litvags heard that child psychiatrist Dr. John Constantino, an expert on the genetic underpinnings of autism, was giving a talk at the Saint Louis Science Center. They decided to go in the hopes of meeting him. They did, and he began seeing Jake as a patient. “One of the big things it did for us as a family is it made us realize that it’s nothing that we did wrong,” Joe Litvag said. “It’s just that people are born all the time” with genetic differences.

Joe Litvag, an executive in the live music industry, and Lisa Litvag, a partner in a marketing firm, reached out to family and friends and raised the $70,000 needed in about six months. While scientists can't go back and see how Jake's brain developed, Dougherty said, mice allow them to watch the mutation play out through generations.

 

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