Four Risk Genes for Tourette Syndrome Identified by Analysis of De Novo Mutations

Tourette disorder (also known as Tourette syndrome) afflicts as many as one person in a hundred worldwide with potentially disabling symptoms including involuntary motor and vocal tics. However, researchers have so far failed to determine the cause of the disorder, and treatments have only limited effectiveness, in part because the genetics underlying the disorder have remained largely a mystery. Now, as reported in the May 3, 2017 issue of Neuron, a consortium of top researchers -- led by scientists at UC San Francisco, Rutgers University, Massachusetts General Hospital, the University of Florida, and Yale School of Medicine -- has made a significant advance, identifying the first "high-confidence" risk gene for Tourette disorder as well as three other probable risk genes. These findings are a step forward in understanding the biology of the disorder, the authors said, which will aid in the search for better treatments. "In the clinic, I have seen, again and again, the frustration that patients and families experience because of our lack of understanding and the limitations of our current treatments. But we have now taken a major initial step forward in changing this reality, thanks to new genomic technologies and a very successful long-term collaboration between clinicians and geneticists," said Matthew State, MD, PhD, Oberndorf Family Distinguished Professor and Chair of the Department of Psychiatry at UCSF and a co-senior author on the new paper. The open-access article is titled “De Novo Coding Variants Are Strongly Associated with Tourette Disorder.”
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