Lab Canada

$3M supports new centre for rare genetic disorders

Montreal, QC – A $3 million donation from Rio Tinto is enabling Montreal’s CHU Sainte-Justine hospital to lay the groundwork for a Centre for Rare Genetic Disorders. The only facility of its kind in Quebec, the new centre of excellence will embrace a model that streamlines clinical expertise, research, teaching and knowledge transfer.

Quebec is home to a significant population of children with a rare genetic condition. Currently one in fifteen Quebecers will develop a disorder of this nature. Roughly 80% of these cases become symptomatic in childhood or adolescence. Some 7,000 rare genetic diseases have been identified to date, although the underlying gene remains unknown in about half of these. This can be traced back to the isolation of the first French settlers in the early days of New France. Research has shown that “founder effect” disorders have emerged in almost every region of the province.  

“With a critical mass of patients, a first-rate medical team and a provincial mandate to assess rare genetic diseases, Sainte-Justine has all of the ingredients at its disposal to better understand and treat these disorders,” said Dr. Fabrice Brunet, chief executive Officer of CHU Sainte-Justine.

“We are very proud to contribute to this game-changing initiative that will bring hope to so many families and children in Quebec,” said Alfredo Barrios, chief executive, Rio Tinto Alcan.

The first step in the creation of the centre will involve the initiation of a one-of-a-kind mitochondrial disease program to develop optimal tools in order to gain a better understanding of these conditions, find suitable treatments and transfer knowledge directly to the patient’s bedside.

“There are about 1,000 types of mitochondrial disease, making it one of the most widespread of the rare genetic disorders, with an incidence rate of one in 5,000. This hard-to-diagnose group can affect every organ, and the repercussions can be severe, debilitating or even fatal,” said Dr. Jacques L. Michaud, a geneticist, researcher and head of the CHU Sainte-Justine Centre for Rare Genetic Disorders.

Sainte-Justine has already honed its expertise in evaluating and treating children with mitochondrial disease, through such initiatives as a multidisciplinary clinic, a biochemical genetics laboratory specializing in the clinical exploration of these conditions and the Integrated Clinical Genomic Centre in Pediatrics set up in 2013 in partnership with Génome Québec. The creation of the Centre for Rare Genetic Disorders will leverage synergies within these platforms and lead to the development of a novel model that may then be extended to other groups of rare genetic disorders.