Uploaded April 2026 | Updated September 2026, 3 hours ago
Rare diseases are defined by complex symptoms, limited scientific knowledge and specialized care needs. Despite impacting approximately three million Canadians, diagnosing and treating each case of Fabry disease, Phenylketonuria (PKU) and many other uncommon conditions can be a significant challenge.
University Health Network’s (UHN) Division of Clinical Genomics strives to help guide testing and connect people to the care they need. As one of the largest genetic testing hubs for rare diseases in Canada, it supports diagnosis, monitoring and patient management for rare inherited and acquired conditions. Learn more about one of the fastest advancing areas of medicine.
0:40 – Why are rare diseases difficult to diagnose?
1:42 – What does UHN’s Division of Clinical Genomics do?
2:24 – How is a care plan devised?
3:25 – What does progress in rare disease care look like?
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UHN is Canada's Hospital and the world's No. 1 universally accessible hospital. With 10 sites and more than 20,000 members of TeamUHN, UHN consists of Toronto General Hospital, Toronto Western Hospital, Princess Margaret Cancer Centre, Toronto Rehabilitation Institute, The Michener Institute of Education at UHN and West Park Healthcare Centre. As Canada's top research hospital, the scope of research and complexity of cases at UHN have made it a national and international source for discovery, education and patient care.
Rare diseases are defined by complex symptoms, limited scientific knowledge and specialized care needs. Despite impacting approximately three million Canadians, diagnosing and treating each case of Fabry disease, Phenylketonuria (PKU) and many other uncommon conditions can be a significant challenge.
University Health Network’s (UHN) Division of Clinical Genomics strives to help guide testing and connect people to the care they need. As one of the largest genetic testing hubs for rare diseases in Canada, it supports diagnosis, monitoring and patient management for rare inherited and acquired conditions. Learn more about one of the fastest advancing areas of medicine.
0:40 – Why are rare diseases difficult to diagnose?
1:42 – What does UHN’s Division of Clinical Genomics do?
2:24 – How is a care plan devised?
3:25 – What does progress in rare disease care look like?
---
UHN is Canada's Hospital and the world's No. 1 universally accessible hospital. With 10 sites and more than 20,000 members of TeamUHN, UHN consists of Toronto General Hospital, Toronto Western Hospital, Princess Margaret Cancer Centre, Toronto Rehabilitation Institute, The Michener Institute of Education at UHN and West Park Healthcare Centre. As Canada's top research hospital, the scope of research and complexity of cases at UHN have made it a national and international source for discovery, education and patient care.
