
Dalhousie‑led gene therapy trial offers breakthrough for rare genetic disorder
An early Canadian gene therapy study for Fabry disease has shown both clinical and economic benefits.
News related to rare disease, including patient stories, new programs and initiatives, and more.

An early Canadian gene therapy study for Fabry disease has shown both clinical and economic benefits.

Researchers at the Vitalité Health Network are building the first province-wide genetic database in New Brunswick, aiming to improve early screening for inherited disorders like cystic fibrosis, sickle cell anemia, and Huntington’s disease.

CRDN provided Health Canada with national insights and recommendations to advance early and equitable rare disease diagnosis.

When two siblings at the Stollery Children’s Hospital showed signs of a rare genetic disorder, the Translational Genomics Hub at the University of Alberta uncovered a novel gene variant that provided their family with a long-sought diagnosis.

A new $800K partnership between SickKids and CHU Sainte-Justine is accelerating access to customizable treatments for children with rare genetic conditions. The ASO Connect project aims to identify eligible patients and design RNA-based therapies (ASOs) to improve outcomes through personalized care.

Brain Canada has awarded a 2024 Platform Support Grant of $553,660 to Dr. Lawrence Korngut and the University of Calgary to expand the Canadian Neuromuscular Disease Registry (CNDR) into a cutting-edge, multi-modal open science platform.
Stay updated with the latest developments and events from the CRDN as we advance rare disease research and care across Canada.

On Rare Disease Day 2025, CRDN participated in national events, fostering collaboration, raising awareness, and sharing updates on progress thus far..

CRDN proudly supports the WHA Resolution on Rare Diseases, aligning with our mission to advance care, research, and health equity for Canada’s rare disease community through global collaboration.

CRDN invites the rare disease community to take part in a survey to share feedback on our draft strategic plan, helping us ensure it meets the needs of the entire community.