Among the objectives of CENUM, the pooling of expertise and the sharing of technology platforms are at the centre of the multi-disciplinar projects. Because most of the diseases studied by the CENUM’s members are of a complex nature, regular silo-based approaches have not been successful at sufficiently advancing the knowledge necessary to develop treatment. This is why we believe that the consolidation in the same research team of medical specialists, clinical researchers, geneticists and neurobiologists is one of the keys to the advancement of knowledge. One example of a multi-disciplinary project is the Montreal Tourette Syndrome Study Group which consists of some thirty researchers and students of different disciplines working together to characterize the symptoms of this disease and to understand its origins. Furthermore, if modern technology enables large-scale research, the acquisition costs of these facilities are such that only a pooling and sharing of available resources make their use possible. The infrastructure of the SD2 project, with an analysis capacity of close to 50,000 DNA fragments per week, allows many teams to undertake research projects that would have been impossible to carry out without access to such an infrastructure.

Montreal Tourette Syndrome Study Group

Gilles-de-la-Tourette syndrome, also called Tourette syndrome, is a neurological disease mainly characterized by complex motor and vocal tics that appear during childhood. This disease affects 0.5 to 1% of the population and it is 3 to 4 times more frequent in boys than in girls. The nature and the severity of the tics vary over the course of a patient’s life, but the symptoms peak in severity around puberty and generally decline during adulthood. Tourette syndrome is often accompanied by symptoms of other disorders (called comorbities) which most frequently include obsessive-compulsive disorder (OCD) and attention deficit hyperactive disorder (ADHD). Tourette syndrome has an important genetic component and is most likely also influenced by different environmental factors.

In order to study the clinical aspects of Tourette syndrome in detail and to identify causative genes, Drs. Rouleau and Chouinard created the Montreal Tourette Syndrome Study Group in 1999. This multidisciplinary research team brings together some thirty participants including nurses, psychologists, clinicians, biologists, geneticists, radiologists specialized in brain imaging, graduate students, postdoctoral fellows, as well as dozens of volunteers. To study the numerous aspects of Tourette syndrome, several members of the CENUM (Sylvain Chouinard, Yves Dion, Paul Lespérance, François Richer, Guy A. Rouleau) team with researchers from the CHUM, the CHU Ste-Justine, the Douglas Hospital, the Sorel and Gaspé Hospitals, UQAM and McGill University as well as teams from the United States, the Netherlands, England, South Africa, and Costa Rica. The Montreal Tourette Syndrome Study Group collaborates with the Tourette Syndrome Association (USA) and the Tourette Syndrome Foundation of Canada and is a participant in the Tourette Syndrome Genetic Consortium.

In recent years the Montreal Tourette Syndrome Study Group was able to identify chromosomal regions associated with the disease and study the comorbities associated with Tourette syndrome. More recently, Tourette syndrome has been the subject of two major studies: a genetic linkage study and a systematic analysis of all the X chromosome synaptic genes.

Synapse to Disease Project

The purpose of the Synapse to Disease Project or S2D is to identify the genes that cause or predispose to numerous disorders of brain development such as schizophrenia, autism, mental retardation and Tourette syndrome. The project is based on two main hypotheses: 1) that disorders of brain development are the result of new mutations and 2) that these new mutations take place in genes involved in the synapse, the contact point between nerve cells. What makes the S2D project unique is that it combines gene screening and genetic validation with the biological analysis of mutations. The project is divided into four steps: the selection of cases and genes to be studied, the amplification of DNA fragments and the detection of genetic variants, the genetic validation of identified mutations and the functional biological analysis of the most interesting mutations. The S2D project started in April 2006 with funding from Genome Canada and Genome Québec. Initial funding made it possible to set up the infrastructure for large-scale analysis, to hire and train personnel as well as to develop the scientific and bioinformatics resources necessary for the proper conduct of the project. Funds from Genome Canada and Genome Québec allow the analysis of synaptic genes in cases of autism and schizophrenia while grants from the Canadian Institutes of Health Research and the Tourette Syndrome Association make it possible to study Mental Retardation and Tourette Syndrome. For more information on the S2D project and its progress visit the project’s website at www.synapse2disease.ca.