CHU Sainte-Justine announces the creation of a Centre for Rare Genetic Disorders with support from Rio Tinto

An outstanding $3‑million donation provides hope for 50,000 Quebec children and their families

MONTREAL, Feb. 18, 2015 /CNW Telbec/ - An outstanding $3‑million donation from Rio Tinto will enable CHU Sainte-Justine to lay the groundwork for a Centre for Rare Genetic Disorders. It will support some 50,000 children in the province who are living with rare genetic conditions, as well as their families. The only facility of its kind in Quebec, this centre of excellence will embrace a model that streamlines clinical expertise, research, teaching and knowledge transfer. It will make it possible to improve patient care and health outcomes through faster and earlier diagnosis, and the development of effective treatments based on future discoveries.

Quebec: home to a significant population of children with a rare genetic disorder
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. "The extraordinary support of partners like Rio Tinto enables us to optimize the care we provide to these patients and their chances for recovery."

"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. "Our company has solid roots in the Saguenay – Lac-Saint-Jean region, where there is a concentration of several rare genetic disorders. By supporting the creation of this centre, we are doing our part to give the affected families access to superior care and a healthier future."

First step: Improving outcomes for children with mitochondrial disease
The first step in the creation of this 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 therefore 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.

"It is a tremendous privilege to have a steadfast partner like Rio Tinto in our community to get this enormous undertaking off the ground," stated Maud Cohen, President and Executive Director of the CHU Sainte-Justine Foundation. "This exceptional gift will enable Sainte-Justine's teams to find better ways to heal more children in Quebec."

About CHU Sainte-Justine 
The Sainte-Justine university hospital centre (CHU Sainte-Justine) is the largest mother-child centre in Canada and the second largest pediatric hospital in North America. A member of the Université de Montréal extended network of excellence in health (RUIS), Sainte-Justine has 5,664 employees, including 1,578 nurses and nursing assistants; 1,117 other healthcare professionals; 502 physicians, dentists and pharmacists; 822 residents; and more than 200 researchers, 300 volunteers and 3,400 interns and students in a wide range of disciplines. Sainte-Justine has 484 beds, including 35 at the Centre de réadaptation Marie Enfant, the only exclusively pediatric rehabilitation centre in Quebec. The World Health Organization has recognized CHU Sainte-Justine as a "health promoting hospital." chusj.org

About the CHU Sainte-Justine Foundation
The Foundation's mission is to engage the community and support CHU Sainte-Justine in its commitment to developing better ways to heal more children in Quebec and provide them with one of the highest levels of healthcare in the world.
www.fondation-sainte-justine.org

About Rio Tinto
Rio Tinto is a leading international mining group headquartered in the UK, combining Rio Tinto plc, a London and NYSE listed company, and Rio Tinto Limited, which is listed on the Australian Securities Exchange.

Rio Tinto's business is finding, mining, and processing mineral resources. Major products are aluminium, copper, diamonds, energy (coal and uranium), gold, industrial minerals (borax, titanium dioxide, salt, talc) and iron ore. Activities span the world but are strongly represented in Australia and North America with significant businesses in South America, Asia, Europe and southern Africa.
www.riotintoalcan.com

 

SOURCE CHU Sainte-Justine

For further information: CHU Sainte-Justine: Mélanie Dallaire, Senior Advisor, Media Relations, 514-345-7707 (direct line), 514-415-5727 (media pager); Rio Tinto: Claudine Gagnon, Principal advisor, Media relations, T : 514-848-8151, C : 514-377-4914

RELATED LINKS
http://www.alcan.com

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