Portrait of Rare Hereditary Diseases in the French-Canadian Founder Population of Saguenay-Lac-Saint-Jean
Portrait of Rare Hereditary Diseases in the French-Canadian Founder Population of Saguenay-Lac-Saint-Jean
Tania Cruz Marino, M.D., Ph.D.
Medical Geneticist, Division of Medical Genetics, Departments of Specialized Medicine, MUHC & JGH,
Associate member, Medical Genetics Service, CIUSSS Saguenay-Lac-Saint-Jean
Assistant Professor, Department of Human Genetics, McGill University
Educational Objectives
- To describe the clinical and molecular characteristics of hereditary diseases that are recurrent in the Saguenay-Lac-Saint-Jean region of Quebec
- To illustrate the carrier frequency of these diseases in Saguenay-Lac-Saint-Jean
- To recognize the role of provincial screening strategies in the prevention of these conditions
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