Research Center Home | Contact | CHU Inside Map | Member's space | Français
About the Center Research Axes Researchers Clinical Research Services Students Chairs & Networks Communications Careers
You are here: › Research Center  › Our Researchers › MICHAUD , Jacques L.
Our Researchers
Our Postdoctorands
 › Our Researchers
MICHAUD , Jacques L.  MD, PhD
Research Axis
Research Theme
CHU Sainte-Justine
Centre de recherche
3175 Chemin de la Côte Sainte-Catherine
Montréal  (QC), Canada
H3T 1C5
514 345-4931 #4727
514 345-4766
Career Summary, Research Topics and Interests


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

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


  • 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.


  • Canadian Institutes of Health Research (CIHR).

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

Awards and Distinctions
  • 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.

Most Important Publications Selected by the Researcher
Hamdan F, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL,
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation
N Engl J Med 2009  599-605.
Hamdan F, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL,
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
Ann Neurol 2009  748-753.
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan F, S2D team, Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA,
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Hum Mol Genet 2008  3965-3974.
Yang C, Gagnon D, Vachon P, Tremblay A, Levy E, Massie B, Michaud JL,
Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake
J Neurosci 2006  7116-7120.
Caqueret A, Boucher F, Michaud JL,
Laminar organization of the early developing anterior hypothalamus
Dev Biol 2006  95-106.
Publications reported to FRSQ

Legal advice. (C) 2007-2008 Centre de Recherche du CHU Sainte-Justine. All rights reserved.