We are members of the Tourette Association of America International Consortium for Genetics (TAAICG). The TAAICG is a group of clinicians and scientists who have been working together, trying to find genes that cause Tourette Syndrome (TS). In the last few years, we have identified some regions of the genome that may harbor TS genes. Now, we want to follow up these findings and identify the genes that cause TS. In order to do this, we need to collect information about tics and other symptoms and DNA from thousands of people with TS. Finding the genes that cause TS is a key step to improving diagnosis and treatment for people with TS and other tic disorders.
This research will use genome-wide SNP array genotyping, whole exome sequencing and whole genome sequencing from individuals with TS and their parents to identify rare, high impact gene variants that contribute to development of this childhood-onset disease. The investigators will then integrate these new data with existing genetic data to examine whether specific combinations of rare and common TS susceptibility gene variants may help to explain clinical markers of disease severity, with the long-term goals of predicting individuals at highest risk for severe, persistent disease and targeting new disease pathways for treatment.
This research represents a collaboration of all major Tourette Syndrome (TS) genetic research consortia that will bring together approximately 12,000 individuals with TS and 50,000 ancestry-matched controls for genome-wide association and copy number variant analyses to identify definitive TS risk genes. We will then integrate these results with functional epigenomic and transcriptomic data from specific cell-types and tissues in the brain across human development, as well as imaging genetic data that can help to identify when and where in the brain TS risk genes cause disease.