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Research Axes

Metabolic and Cardiovascular Health

Mission and themes

Although individually rare, collectively, inherited metabolic diseases (IMDs) represent a substantial population health burden in Canada and internationally. The axis represents the principal research unit in Quebec on pediatric genetic diseases, non-transmittable chronic cardiometabolic and several nutritional disorders.

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 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.

The axis has created important clinical cohorts and has access to different types of biological samples from the local biobank with clinical data to address mechanistical and clinical questions related to metabolic diseases and nutrition. For example, CIRCUIT (Pediatric Intervention Centre for Heart Disease Prevention and Rehabilitation) was created to improve health in children with a high risk of cardiovascular disease, as well as personalized intervention strategies related to the resources of their community to optimize their level of health. CIRCUIT targets in particular recruitment of young people with conditions such as obesity, hypertension, diabetes, dyslipidemia or congenital heart disease.

On a global level, our researchers contribute to major national and international initiatives and organisations in obesity, diabetes and cardiovascular health such as EPODE International, a worldwide network on childhood obesity.


Themes

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

Researchers

Energy metabolism, stress and mitochondrial dysfunction

Researchers

Cardiometabolic and vascular health: from genetics to environmental approaches

Researchers

Pediatric gastro-intestinal and liver diseases

Researchers
About this page
Updated on 10/12/2018
Created on 8/8/2014
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