Title: "Portrait of rare hereditary diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean"
Speaker: Dr. Tania Cruz-Marino
Educational Objectives:
1. To describe the clinical and molecular characteristics of hereditary diseases that are recurrent in the Saguenay-Lac-Saint-Jean region of Quebec.
2. To illustrate the carrier frequency of these diseases in Saguenay-Lac-Saint-Jean.
3. To recognize the role of provincial screening strategies in the prevention of these conditions.
Biosketch:
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 was appointed as instructor, assistant and associate professor at the Holguin Medical University. 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 has a particular interest in Cancer Genetics. She has authored or co-authored 35 articles published in peer-reviewed journals. Her most recent research work is related to carrier frequency estimation for rare diseases that are frequent in Saguenay, probably due to a founder effect.
