Dietrich, Andrea3; Fernandez, Thomas V3; King, Robert A3; State, Matthew W3; Tischfield, Jay A3; Hoekstra, Pieter J3; Heiman, Gary A3; Plessen, Kerstin J1
1 Børne- & Ungdomspsykiatrisk Center Bispebjerg, Børne- og Ungdomspsykiatrisk Center, Region Hovedstaden, Mental Health Services, The Capital Region of Denmark2 Børne- og Ungdomspsykiatrisk Center, Region Hovedstaden, Mental Health Services, The Capital Region of Denmark3 unknown
objectives and methods
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS.
European Child and Adolescent Psychiatry, 2015, Vol 24, Issue 2, p. 141-51