# Global partnerships in rare disease research

## TL;DR

This paper discusses how the Canadian RDMM Network fosters global collaborations to study rare diseases using model organisms and shares its tools and processes internationally.

## Contribution

The paper introduces the Canadian RDMM Network and its international expansion to bridge clinical and model organism research for rare diseases.

## Key findings

- The RDMM Network has funded over 160 collaborative projects and enabled insights into numerous rare conditions.
- The RDMM Registry software has been adopted internationally, enabling cross-border collaborations and access to model organism expertise.

## Abstract

Rare diseases collectively impact hundreds of millions worldwide, yet the genetic causes of many remain unknown or poorly understood. Model organisms (MOs) – such as yeast, fly, zebrafish and mouse – provide powerful experimental systems for functional validation of candidate genes and variants, elucidation of gene function and disease mechanisms, and identification of potential therapeutic targets and treatments. However, gaps persist between clinical gene discovery and MO-based research. The Canadian Rare Diseases: Models and Mechanisms (RDMM) Network was established in 2014 to address this gap by linking clinicians with MO researchers through a scientist registry and peer-reviewed funding process. Over the past decade, the RDMM Network has funded over 160 collaborative projects, enabled insights into numerous rare conditions, and led to sustained partnerships and external funding. The RDMM Registry software has been adopted internationally, forming a network of interoperable registries that enable cross-border collaborations and expand access to MO expertise worldwide. Going forward, the Canadian RDMM Network remains committed to sharing its tools, processes and experience to help establish new RDMM-like networks worldwide and invites the global research community to join efforts to accelerate rare disease research.

Summary: This article discusses our experience with the Canadian Rare Diseases: Models and Mechanisms (RDMM) Network and the emerging RDMM International network, which aim to accelerate functional research on rare disease genes and promote global collaborations.