My research interests are centered on the genetics of neuro-developmental disorders, including intellectual disability, autism and epilepsy. We are using genomic approaches to identify novel genes associated with these disorders. We also aim to study the function of some of these genes in cellular and animal models with the goal of developing therapeutic strategies. In the context of these functional studies, we are focusing our attention on genes that are involved in the development of neuronal circuits and synaptic plasticity, as these processes are particularly active during childhood and can be modulated by pharmacological agents.
In parallel, my group is studying the use of genomic sequencing for the clinical investigation of rare disorders in the context of the Génome Québec/CHU Sainte-Justine Integrated Center for Clinical Genomics in Pediatrics. More specifically, we aim to evaluate the impact of these analyses on the investigation of specific groups of disorders and to define the optimal modalities of their use in clinical settings.
$6.7 million to better protect children in times of pandemic
The Collaborative Unit for Translational Research: a unique patient-focussed partnership between the NRC and CHU Sainte-Justine