Titles

• Associate Professor, Department of Pediatrics, University of Montreal.

• Adjunct Professor, Department of Biochemistry, University of Montreal.

Education

• Postdoctoral Fellow, Department of Embryology, Carnegie Institution of Washington, Baltimore, USA , 1997-1999.

• Postdoctoral Fellow, Collège de France and Centre national de la recherche scientifique, Paris, 1994-1997.

• Fellow – Medical Genetics, Royal College of Physicians and Surgeons of Canada, 1994

• Fellow – Pediatrics, Royal College of Physicians and Surgeons of Canada, 1992.

• MD, Faculty of Medicine, University of Montreal, 1988.

Research Interests

We have developed two research programs that aim at better understanding brain development.

Genetics of Mental Retardation

Although it represents the most frequent severe handicap in children, mental retardation remains largely unexplained. We have hypothesized that de novo mutation in synaptic genes may be involved in a large fraction of patients with mental retardation. We have initiated a project that aims at identifying these mutations using a high-throughput sequencing strategy. Specifically, we are currently sequencing 500 synaptic genes in 190 patients with non-syndromic mental retardation. This unprecedented effort will explore the impact of large-scale sequencing for the exploration of heterogeneous neuro-developmental conditions such as mental retardation.

Development of the Hypothalamus

The hypothalamus controls essential physiological processes, such as food intake, drinking and blood pressure regulation. We have developed a research program centered on the hypothesis that disruption of hypothalamic development will affect these processes and cause common diseases such as obesity and high blood pressure. Using genetically-engineered mice, we have identified a cascade of transcription factors essential to the development of an important group of hypothalamic neurons. We are currently using various approaches to further dissect this cascade. In parallel, we have shown that the haploinsufficiency of Sim1, which codes for a bHLH-PAS transcription factor necessary for the development of the hypothalamus, induces severe hyperphagia and obesity in mice. Moreover, haploinsufficiency of SIM1 in humans appears to represent a common cause of monogenic obesity. We are studying the mechanism by which a decrease of Sim1 disrupts energy balance. These latter observations validate our hypothesis that the study of hypothalamic development can shed light on common diseases that affect homeostasis.

Grants

• Canadian Institutes of Health Research (CIHR).

• Fonds de la recherche en santé du Québec (FRSQ).

• Senior Research Scholar, FRSQ, 2007-2010.

• Clinical Investigatorship, Institute of Genetics, CIHR, 2007-2009.

• Junior 2 Research Scholar, FRSQ, 2005-2007.

• Clinician-Scientist Salary Award, CIHR, 1999-2005.