Cargando…
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: 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...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209328/ https://www.ncbi.nlm.nih.gov/pubmed/24771252 http://dx.doi.org/10.1007/s00787-014-0543-x |
_version_ | 1782341245396320256 |
---|---|
author | Dietrich, Andrea Fernandez, Thomas V. King, Robert A. State, Matthew W. Tischfield, Jay A. Hoekstra, Pieter J. Heiman, Gary A. |
author_facet | Dietrich, Andrea Fernandez, Thomas V. King, Robert A. State, Matthew W. Tischfield, Jay A. Hoekstra, Pieter J. Heiman, Gary A. |
author_sort | Dietrich, Andrea |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4209328 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-42093282015-02-13 The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods Dietrich, Andrea Fernandez, Thomas V. King, Robert A. State, Matthew W. Tischfield, Jay A. Hoekstra, Pieter J. Heiman, Gary A. Eur Child Adolesc Psychiatry Original Contribution 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. Springer Berlin Heidelberg 2014-04-26 2015 /pmc/articles/PMC4209328/ /pubmed/24771252 http://dx.doi.org/10.1007/s00787-014-0543-x Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open AccessThis article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. |
spellingShingle | Original Contribution Dietrich, Andrea Fernandez, Thomas V. King, Robert A. State, Matthew W. Tischfield, Jay A. Hoekstra, Pieter J. Heiman, Gary A. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods |
title | The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods |
title_full | The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods |
title_fullStr | The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods |
title_full_unstemmed | The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods |
title_short | The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods |
title_sort | tourette international collaborative genetics (tic genetics) study, finding the genes causing tourette syndrome: objectives and methods |
topic | Original Contribution |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209328/ https://www.ncbi.nlm.nih.gov/pubmed/24771252 http://dx.doi.org/10.1007/s00787-014-0543-x |
work_keys_str_mv | AT dietrichandrea thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT fernandezthomasv thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT kingroberta thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT statemattheww thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT tischfieldjaya thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT hoekstrapieterj thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT heimangarya thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT thetouretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT dietrichandrea touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT fernandezthomasv touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT kingroberta touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT statemattheww touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT tischfieldjaya touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT hoekstrapieterj touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT heimangarya touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods AT touretteinternationalcollaborativegeneticsticgeneticsstudyfindingthegenescausingtourettesyndromeobjectivesandmethods |