02/27/2026
In honour of on February 28, we recognize the millions of people worldwide who live with rare conditions and the important role that research plays in improving diagnosis, treatment, and care.
Rare diseases are often difficult to detect and manage, and many lack established treatment options. Advancing understanding through research is essential for improving outcomes.
At UHN, researchers across our institutes are generating new insights that could shape the future of rare disease care.
Explore some of our latest rare disease research below:
▶️ Researchers at UHN’s Princess Margaret Cancer Centre are studying an innovative immunotherapy treatment that may improve outcomes for patients with soft tissue .
🔗: https://www.uhnresearch.ca/news/breakthrough-sarcoma-treatment
▶️ Scientists at UHN’s Krembil Brain Institute have identified a genetic mutation linked to a rare debilitating neurological disorder—hypomyelinating leukodystrophy-15 (HLD15).
🔗: https://www.uhnresearch.ca/news/breakthrough-rare-disorder
▶️ A recent study from UHN is using to predict the severity of chronic thromboembolic pulmonary hypertension (CTEPH)—a rare lung condition.
🔗: https://www.uhnresearch.ca/news/predicting-disease-severity-ai
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University Health Network | The KITE Research Institute | McEwen Stem Cell Institute | The Institute for Education Research at UHN | UHN Foundation | The Princess Margaret Cancer Foundation