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November 21, 2008


A new team will study data derived from next generation sequencing

Dr Guy A. Rouleau is pleased to announce that a group of investigators from Université de Montréal received a $2.25 million research grant for a project entitled “Emerging Team in development of strategies for uptake and analysis of nanosequencing-derived data sets and linking to disease”..


In June 2008, a group of investigators from Université de Montréal submitted an application to the Canadian Institutes of Health Research’s Emerging Team Grant: Regenerative Medicine and Nanomedicine program. “The goal of the project is to create a team of investigators that will develop strategies to analyze the large amount of DNA sequence data derived from next generation sequencing technologies in order to identify and validate genes associated with brain diseases” explained Dr. Rouleau, the leader of this newly funded team.


Next generation sequencing (or nano-sequencing) generates massive sequence data-sets that require a new level of analysis. The first challenge is to develop bioinformatics tools capable of handling such large sequence data sets and detect rare mutations causing disease. A second challenge resides in the genetic and biological validation of these rare mutations in order to confirm their role in the development of the symptoms. Clinical characterization of the symptoms and ethical issues related to the sequencing of patients' genomes will also be studied by the team. “The large scope of such a project made its completion by isolated investigators virtually impossible and only a collaborative and multidisciplinary approach can lead to success” noted Dr. Rouleau.


The team is composed of Drs Guy Rouleau, Pierre Drapeau, Michel Bouvier, Sylvain Chouinard, Marie-Pierre Dubé, Jacques Michaud, Mark Samuels, Paul Lespérance, Philip Awadalla and Bartha Maria Knoppers and combines expertise in biology, bioinformatics, ethics, population and statistical genetics, genomics, neurology and psychiatry. In order to achieve its goals, the team will focus on the screening of genomes of patients affected with Tourette Syndrome. A subset of an existing Tourette cohort will be used for nano-sequencing and the collected data will form the starting point for the development of improved procedures and software tools for the identification and validation of disease-causing mutations. Once validated, these procedures will be applied to other neurological and psychiatric disorders such as autism, schizophrenia, or mental retardation.

This new team will join the S2D Project initiative aimed at the identification of genes involved in neurodevelopmental diseases. Visit the http://www.synapse2disease.ca for more information.