funded by the Tourette Syndrome Association, Inc.

Project Summary

The genetic background of Tourette Syndrome (TS) is complex with multiple genes possibly interacting with environmental factors to lead to the onset of the disorder. The elucidation of the genetic component of TS will require the study of very large samples of families with TS, as experience from the study of other complex disorders clearly indicates. The current project will bring together an international team of psychiatrists, psychologists and geneticists in order to shed light into the genetic basis of the disorder. Seven countries from Southern and Eastern Europe are going to participate (Greece, Hungary, Italy, Albania, Poland, Russia, and Ukraine) forming a network of scientists that will promote the study of TS genomics in the region, and help raise public awareness about the disorder.

In each participating country, samples are going to be collected from 50 individuals with TS and their parents (trios) and a biobank of DNA samples is going to be created. These samples are going to be added to an existing collection of 100 families with TS that have already been collected in Hungary, for a total of 450 trios with TS. These samples are then going to be studied for the identification of genetic variants that are associated with the susceptibility to the disorder. The study is going to follow up on recent results from the Tourette Syndrome Association International Consortium for Genetics whole genome scan. Furthermore, candidate genes in the dopaminergic and serotonergic pathways, that have been recently proposed to influence TS etiology, are also going to be investigated (MAO-A, DAT1 and TPH2).  Positive findings are going to be followed by fine mapping of the implicated regions of the genome.

This study is going to create an important resource for the study of TS genetics around the world, aiming to reveal the causes of TS, thus ultimately leading to improved treatment of the disorder. Moreover, this project will set the seeds for the formation of an international team of scientists in Southern and Eastern that will join their efforts in order to increase our understanding of TS and educate both the public and professionals in the region about the disorder.