Tourette Syndrome (TS) is an often disabling hereditary condition characterized by motor and phonic tics that today affects approximately 200,000 children and adults in the U.S. and Canada. In a meeting jointly sponsored by the National Institutes of Neurological Disorders and Stroke (NINDS) and Mental Health (NIMH), the Office of Rare Disorders (ORD) and the Tourette Syndrome Association (TSA), over 100 prominent scientists, experts in TS, professional staff of several NIH agencies and leaders from the pharmaceutical industry, convened to develop strategies aimed at finding improved therapies for children and adults with TS. About half of those with TS also have symptoms of anxiety, obsessions, compulsions, impulsivity and inattention. Therefore, it is expected that the success of this initiative likely may well prove beneficial for other patients, and inform scientists in the fields of Obsessive Compulsive Disorder (OCD) and Attention Deficit Hyperactivity Disorder (ADHD).
The meeting was without precedent in that it brought together the directors and division heads from both NINDS and NIMH. These agencies share a special interest in TS as a model disorder that bridges the boundaries of brain and behavior. In their welcoming remarks both Story Landis, Ph.D., director of the NINDS, and Thomas Insel, M.D., director of NIMH, emphasized that their respective Institutes are committed to sharing resources and expertise in order to streamline and accelerate new treatments for this complex disorder. Specifically, the goal of the meeting was to identify new research findings ripe for translational research. During the meeting it became clear that through the diligence and creativity of many basic scientists, clinician researchers and science administrators, there are now sufficient momentum and traction to push this agenda forward.
NIH Institutes are already cooperating on the establishment of genetic repositories and DNA libraries for many neurobehavioral disorders including TS. Similarly, the NIH has created a geographically distributed national network of laboratories under contract to provide scientists access to important novel (and expensive) technologies and equipment not available to many. The absence of these facilities often hampers and slows deserving research.
The NIH is also committed to promoting the availability of these valuable resources, therefore spurring progress and scientific discovery across Institutes.
During the meeting investigators from various disciplines shared the latest findings on topics as diverse as the anatomy and physiology of basal ganglia and other brain regions thought to mediate the signs and symptoms of TS. A better understanding of the cortical-subcortical brain circuits responsible for tics and compulsions will be critical to improved understanding of other therapies being developed in TS. There was much discussion on the physiology, neurochemistry and pharmacology of tics, obsession, compulsions and impulsivity. Scientists identified the handful of experimental models of signs in TS, emphasizing the need for better models. Examples of these include behavioral paradigms to study habit formation and reversal, mechanisms of learning, and addictive behaviors.
Discussion turned to the first, albeit unique genetic mutation linked to an individual with TS. David Pauls, Ph.D., principal investigator of the TSA International Genetics Consortium, announced the identification of a region on chromosome 2 that may be the location of a gene responsible for causing TS. While still unidentified, the hope is that this gene may well be relevant to a much larger group of patients studied by this Consortium. Both these pivotal discoveries were funded by the NIH, with the early and middle work of the TS Genetic Consortium funded by TSA.
A follow up meeting will be sponsored by TSA with a view toward the formation of a Consortium for Clinical Trials in TS.
“For the TS community the good news is that help is coming, and that the NIH continues to make good on its commitment to targeting and funding meritorious programs aimed at finding new and improved treatment for people with TS,” said Judit Ungar, President, TSA.
Acknowledgements: This meeting was chaired by Lawrence Scahill, Ph.D. and members of the TSA Scientific and Medical Advisory Boards, by Laura Mamounas, Ph.D., Program Director, Neurogenetics and Development at NINDS, Ann E. Wagner, Ph.D., Chief, Neurodevelopmental Disorder Branch, Division of Pediatric Translational Research and Treatment at NIMH, and Sue Levi-Pearl, V.P. and Director of Medical and Scientific Programs at TSA.
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