Identifying genes that are responsible for Tourette syndrome
Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder that causes affected children to make repeated, brief involuntary movements (motor tics) or sounds (vocal tics). TS occurs in about 1% of children, making TS one of the most common childhood psychiatric disorders. In moderate and severe cases, children with TS can have uncontrollable verbal outbursts or forceful motor tics. In these cases, TS can be debilitating to the education and quality of life of affected children. Many children with TS also have other psychiatric findings, such as obsessive-compulsive disorder, attention deficit hyperactivity disorder, or autism. About 60% of the risk of developing TS is genetic, but we know little about what genes are responsible for TS. We will use the clinical and genetic information available for a set of 123 children with Tourette syndrome and autism to find new genes that cause Tourette syndrome. We will find out how changes in these genes affect the proteins that are encoded by the genes. These proteins are likely to play important roles in the brain during development. This project will identify biological pathways that contribute to genetic susceptibility to Tourette syndrome. Understanding the biological pathways impaired by TS gene mutations is the first step to moving from merely symptomatic therapy to therapy based on the underlying mechanism of this common childhood psychiatric disorder. The proposed research is consistent with WCHRl's Strategic Roadmap, to improve our understanding of rare and complex childhood diseases.