Global partnerships in rare disease research

Area of Science:

• Genetics
• Rare Diseases
• Model Organisms

Background:

• Rare diseases affect millions globally, with many genetic causes remaining unidentified.
• Model organisms (yeast, fly, zebrafish, mouse) are crucial for validating genes, understanding disease mechanisms, and finding therapies.
• A gap exists between clinical genetic discoveries and model organism research applications.

Purpose of the Study:

• To address the gap between clinical rare disease gene discovery and model organism research.
• To establish a network linking clinicians with model organism researchers.
• To facilitate functional gene validation and disease mechanism elucidation.

Main Methods:

• Establishment of the Canadian Rare Diseases: Models and Mechanisms (RDMM) Network in 2014.
• Implementation of a scientist registry and a peer-reviewed funding process.
• Development and international adoption of the RDMM Registry software for interoperable registries.

Main Results:

• Funded over 160 collaborative projects in the past decade.
• Provided insights into numerous rare conditions.
• RDMM Registry software adopted internationally, enabling cross-border collaborations and access to model organism expertise.

Conclusions:

• The RDMM Network successfully bridges clinical and model organism research communities.
• The RDMM Registry software facilitates global collaboration and knowledge sharing.
• The network is committed to establishing similar initiatives worldwide to accelerate rare disease research.