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Center on Human Development and Disability


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Genetics Program

Collaborative Genomic Studies of Tourette Disorder

Contact: Samuel Zinner

Core Function: Research and Evaluation

Decades of evidence support a significant genetic contribution to Tourette Disorder (TD), but findings of a gene or genes involved in TD has been limited, largely because TD has a complex inheritance pattern and there is a lot of variability in the clinical appearances of TD and its co-occurring conditions. This project will employ a collaborative group of expert clinicians who specialize in TD from 7 sites around the United States and 2 international sites to build a large database of biomaterial resources collected from people with TD and blood relatives. An increased genetic understanding of TD will ultimately allow new and more effective approaches to treating this often-debilitating disorder, and consequently will have marked public health benefits.

Three specific aims of this project include:

Specific Aim 1: Recruit 5000 individuals with TD (and their family members), and make DNA, cell-lines, cDNA/RNA and phenotypic data publicly available within one year of collection. This will include the recruiting each year of at least 10 TD pedigrees with 4 or more affected members as a resource for family-based gene discovery.

Specific Aim 2: Employ state-of-the-art techniques to identify and confirm rare and common variants contributing to TD.

Specific Aim 3: Perform preliminary analyses of 300 transcriptomes of TD subjects to investigate the implications of selected structural and sequence variations for cis, trans and genome-wide expression. PAXgene tubes will be collected from all subjects and made available to the scientific community to enable future studies by the scientific community.

University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •

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