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About this series – Telehealth for Genetics Residents and Fellows. A monthly teaching session brought to you by the members of the RCPSC Specialty Committee in Medical Genetics.



Title: Portrait of Rare Hereditary Diseases in the French-Canadian Founder Population of Saguenay-Lac-Saint-Jean

The population of the Saguenay-Lac-Saint-Jean (SLSJ) region, located in the province of Quebec, Canada, is recognized as a founder population, where some rare autosomal recessive diseases show a high prevalence. Through the clinical and molecular study of 82 affected individuals from 60 families, this study outlines 12 diseases identified as recurrent in SLSJ. Their carrier frequency was estimated with the contribution of 1059 healthy individuals, increasing the number of autosomal recessive diseases with known carrier frequency in this region from 14 to 25. We review the main clinical and molecular features previously reported for these disorders. Five of the studied diseases have a potential lethal effect and three are associated with intellectual deficiency. Therefore, we believe that the provincial program for carrier screening should be extended to include these eight disorders. The high-carrier frequency, together with the absence of consanguinity in most of these unrelated families, suggest a founder effect and genetic drift for the 12 recurrent variants. We recommend further studies to validate this hypothesis, as well as to extend the present study to other regions in the province of Quebec, since some of these disorders could also be present in other French-Canadian families.

Learning objectives:

  • Describe the clinical and molecular characteristics of hereditary diseases that are recurrent in the Saguenay-Lac-Saint-Jean region of Quebec.
  • Illustrate the carrier frequency of these diseases in saguenay-Lac-Saint-Jean.
  • Recognize the role of provincial screening strategies in the prevention of these




Dr. Tania Cruz-Marino


Dr. Tania Cruz Marino received her medical degree in Cuba from Holguin Medical University. She completed the Medical Genetics residency program as well as her PhD studies at the Havana Superior Institute of Medical Sciences. Dr Cruz Marino headed the Predictive Diagnosis Department at the Cuban national center for research and rehabilitation of hereditary ataxias. She has authored or co-authored 38 articles published in peer-reviewed journals.

Dr. Cruz Marino holds a specialist certificate in Medical Genetics granted by the Collège des Médecins du Québec. Being the first full-time medical geneticist in the Saguenay, she has contributed to the development of the Medical Genetics Service in that region. She is an assistant professor at the Human Genetics Department (MUHC), a member of the Medical Genetics Division and the Specialized Medicine Department at the MUHC, and she has a particular interest in Cancer Genetics.

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Friday, March 28, 2024
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Friday, May 17, 2024
Friday, June 21, 2024

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