SEPTEMBER 2024LIFE SCIENCES REVIEW8IN MY OPINIONBy France Lebel, Senior Director Medical Affairs, RecordatiWHAT ABOUT RARE DISEASES - CANADA'S NATIONAL STRATEGY TO SUPPORT INNOVATION AND ACCESSy passion for rare diseases started in the early 90s when I studied a rare genetic metabolic disorder, Tyrosinemia Type 1, and its founder effect in Quebec. At the time, the mutation was unknown, infants were put on a liver transplant list at birth, and survival rates were very low. The only treatment was a low-protein diet. These patients and their families suffered immensely. Fast forward to today, the mutation has been identified, an oral treatment with nitisinone has been added to the low-protein diet and survival rates above 90 percent can be expected. Thanks to the advancement of science and research, individuals with some previously fatal diseases can thrive while patients affected by other rare diseases still hope for treatments.A rare disease is a condition that affects less than one person in 2000 in their lifetime. While the prevalence of each rare disease is low, it is estimated that there are >7000 rare genetic diseases. About one in 12 Canadians, approximately 3 million people and their families are impacted by a rare disease. Of those, two-thirds are children, and the majority have significant disability, with a risk of early death. Most importantly, for almost all these diseases, no targeted treatment is available. Families and patients with MFrance Lebel
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