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Research Axes

Metabolic and Cardiovascular Health Axis

Axis Head
Axis Head Deputy(ies)

Mission and themes

Although individually rare, collectively, inherited metabolic diseases represent a substantial population health burden in Canada and internationally.

The axis groups two themes:

  1. Cardiovascular health
  2. and metabolic / genetic diseases in Quebec.

The Metabolic and Cardiovascular Health axis seeks to understand, prevent and intervene in important metabolic issues ranging from the fetal period through to adulthood. 

Metabolism is regulated by a complex network of genetic, nutritional, hormonal, developmental and environmental influences, responsible for either disease or health and well-being based on the architecture, interconnectivity and internal functional relationships of the network.

Current knowledge of metabolism remains fragmentary despite the wealth of classical and post-genomic data. This emerging group of researchers, with technical expertise in genomics, bioinformatics, proteomics and metabolic flux, is furthering its knowledge of these fields as well as integrating its data in order to build efficient predictive models.

Metabolism is the subject of a new discipline: systems biology. It is the focus of most of the pharmacological and/or nutritional treatments used in modern medicine.

The axis represents the principal research unit in Quebec on pediatric genetic diseases, non-transmittable chronic cardiometabolic and several nutritional disorders. The CHU Sainte-Justine has taken an important leadership role not only in pursuing research to identify the genetic determinants of these diseases and develop efficient therapies and interventions but also in pioneering knowledge translation of findings in pediatric metabolic health in Quebec. For example, cutting-edge work on identifying the genetic causes and mechanisms underlying hereditary tyrosinemia and neonatal hyperthyroid disease has led to the implementation of new guidelines and changes in clinical practice.


Genetic and metabolic diseases in Quebec: diagnosis, mechanisms and interventions

Energy metabolism, stress and mitochondrial dysfunction

Cardiometabolic and vascular health: from genetics to environmental approaches

Pediatric gastro-intestinal and liver diseases

About this page
Updated on 11/15/2021
Created on 8/8/2014
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