CIHR actively addresses rare diseases through funding research initiatives, promoting collaboration among scientists, clinicians and patient partners and supporting the development of innovative approaches to diagnosis, treatment, and patient care across many rare disease areas.

A key aspect of CIHR’s approach is supporting the generation and utilization of diverse datasets on rare diseases through research funding and collaboration initiatives. Before this involvement, the CIHR Institute of Genetics had launched many rare-disease-focused funding opportunities since 2012. The CIHR Institute of Genetics has been active in international rare diseases research organizations such as IRDiRC (International Rare Diseases Research Consortium), the E-Rare Consortium, and the EJP-RD (European Joint Programme on Rare Diseases).

Patient Involvement: Patients and caregivers with lived experience of rare diseases actively contribute to CIHR initiatives by serving in advisory roles, participating in data generation through surveys and registries, and engaging in advocacy and awareness activities to inform and shape research endeavours. Their involvement ranges from the design of funding opportunities to address patients’ needs, to peer review of the submitted applications, to their mandatory inclusion in the funded research as patient partners.

Recent Initiative: Through the 2023 National Strategy for Drugs for Rare Diseases, CIHR received $32M over five years to advance rare disease research in Canada and improve the lives of people with rare diseases and caregivers. Because of this funding, the CIHR Rare Disease Research Initiative will fund rare disease research in Canada by supporting establishing a national rare disease clinical trials network, preclinical research, and implementation research.