Canadian Common CV
As a pediatric neurologist specialized in neurogenetics, I am interested in the genetic causes that underlie neurodevelopmental disorders (epilepsy, autism, intellectual deficiency). To investigate these conditions, my laboratory pursues two lines of research. First, we investigate the molecular basis of severe childhood epileptic disorders using whole genome sequencing in cohorts of patients with various seizure disorders. In parallel, we use genetic mice models of these disorders to investigate the mechanisms by which mutations in these genes alter the development or function of neurons and cause epilepsy. We are particularly interested in the development of GABAergic interneurons, the brain inhibitory neurons, and their role in regulating seizure generation and cognitive functions. For this purpose, we use targeted genetic ablation strategies to selectively ablate genes of interest in specific subtypes of interneurons. We study the consequences of these manipulations by combining in vivo EEG recordings, in vitro physiological recordings and immunohistochemical approaches. We believe that the combination of these basic science and clinical approaches will allow us to shed light on some of the underlying mechanisms that lead to severe epileptic syndromes, and potentially open the way for the development of new therapeutic strategies for these patients.
More than $ 7 million in grants to advance research in mother-child health
Almost $40 million in grants from the Innovation Fund of the Canada Foundation for Innovation