CHHD  |  Child Health and Human Development Program


The Child Health and Human Development Program encompasses four general themes which will foster internal collaborations to result in strong translational and transdisciplinary child health-focused research:

Posterior pole of the right eye of patient USHLB13-II.3 showing atrophy of the retina and choroid with pigment spicules (arrows) anterior to the arcadesHuman Reproduction and Development

Gametogenesis (Dr. Chan, Dr. Clarke, Dr. Nagano, Dr. Naoumova, Dr. O'Flaherty, Dr. Ryan, Dr. TaketoDr. Trasler, Dr. Zini)

Embryo development and health (Dr. Dufort, Dr. Gupta, Dr. Jerome-Majewska, Dr. Naoumova, Dr. Ryan, Dr. Slim, Dr. Trasler

From bench to bedside, to populations and back (Dr. BassoDr. A. Gagnon, Dr. Kramer, Dr. Platt)

The conceptual design of our program starts at the beginning of life, with the examination of biological and health-related events of the gamete prior to fertilization, through the early embryo, to the foetus and perinatal events. It is known that much of human health throughout life is determined during these crucial steps. Three subdivisions of this theme are covered by our program:

Gametogenesis: There is an urgent need to better understand how the gametes are created, what can go wrong during this complex process, how it can be affected by adverse environment, and how we may ensure that clinical interventions produce healthy newborns

Embryo development and health: Following fertilization, a key bottleneck occurs at implantation of the embryo into the uterus, where disruption of the maternal-fetal interface leads to pre-eclampsia or pregnancy loss.

From bench to bedside, to populations and back: To transfer these findings to human subjects and populations in the perinatal period


MRI characteristics of POLR3-related leukodystrophy caused by POLR1C mutationsMolecular and Cellular Determinants of Child Health

Common themes in different health issues (Dr. Eppert, Dr. Jabado, Dr. Polychronakos, Dr. Rak, Dr. Rohlicek)

Environment and epigenetics (Dr. C. Goodyer, Dr. Naoumova, Dr. Rozen)

From common to rare diseases (Dr. Braverman, Dr. Bernard, Dr. Gupta, Dr. Jerome-MajewskaDr. Mitchell, Dr. P. Goodyer, Dr. Rosenblatt, Dr. Ryan)

Despite recent advances, a multitude of health issues (both biological and psychosocial) during the formative years of childhood remain unresolved, affecting health for the rest of the individual's life. Three subdivisions of this theme are covered by our program:

Common themes in different health issues: Genetic basis of diabetes and autoimmunity, genetics and epigenetics of childhood brain tumors, and malignancy via exosomal and leukemic stem cell work

Environment and epigenetics: Genes are not the exclusive determinants of health and the study of their interaction with environmental factors will be enabled, in the next five years, by enormous progress in epigenetics, the study of the molecular footprints of the environment.

From common to rare diseases: Although rare individually, many diseases as a group contribute a significant health burden that must be addressed. These include various kidney and urogenital diseases, peroxisomal disorders, and rare metabolic disorders


Mathematical representation of the electrical signal that is generated by the human retina following a brief flash of lightNeuropsychological and Vision Health

Neurodisability (Dr. I. Gagnon, Dr. Hechtman, Dr. Oskoui, Dr. Sebire, Dr. Shevell, Dr. Wintermark

Breakthroughs in rare disorders (Dr. Bernard, Dr. Srour)

Genetics and electrophysiology of vision and hearing (Dr. Daniel, Dr. Koenekoop, Dr. Lachapelle, Dr. Wintermark)

Neurological function, vision and hearing depend on complex processes vulnerable to irreparable damage from disease and are, for this reason, major causes of disability. The study of the causes, mechanisms, diagnostics and therapeutics of the related disabilities is a high priority in our program. Three subdivisions of this theme are covered by our program:

Neurodisability: Much brain injury arises in perinatal events and is grouped under generic terms, such as global developmental delay or cerebral palsy

Breakthroughs in rare disorders: Leukodystrophies and other neurodegenerative disorders of the CNS, although rare, also represent a significant burden collectively, especially in founder populations such as we have in Quebec.

Genetics and electrophysiology of vision and hearing: The study of visual impairment cannot be neglected in research addressing children.


Kaplan–Meier curves of duration of exclusive breastfeeding in first 6 months after birth among 2907 mothers who initiated breastfeeding, stratified by maternal smoking status.Health Outcomes in Childhood Disease

Database mining and knowledge translation (Dr. Fontela, Dr. Fortier, Dr. Li, Dr. Majnemer, Dr. Nakhla, Dr. Platt)

Working with children's health problems (Dr. Brouillette, Dr. Constantin, Dr. Daniel, Dr. Foster, Dr. Majnemer, Dr. Rennick, Dr. Semenic, Dr. Zappitelli)

Fundamental and clinical research requires guidance on the important issues to address. In addition, public health policy is often based on assumptions for which the evidence base is lacking. Generating such evidence base and guidance requires individuals with specific skills and interests, which are widely represented in our program. Two subdivisions of this theme are covered by our program:  

Database mining and knowledge translation: Identifying problems and priorities in health must start with a broad view of available data 

Working with children's health problems: Approaches more focused on the individual patient are pursued by many investigators in this theme