RDMM

RDMM connects clinicians who identify novel rare-disease genes with model-organism (MO) scientists to enable functional characterization of variants and elucidation of molecular mechanisms in rare diseases.

Key Features:

• Canadian registry of MO scientists: An open-source, portable, and customizable registry enumerating over 500 model-organism scientists with expertise covering more than 7,500 human genes.
• Structured committee evaluation: A committee-based process assesses potential clinician–MO scientist collaborations for scientific fit.
• Catalyst funding: Successful matches receive catalyst funding of up to 25,000 Canadian dollars to support initial projects.
• Matchmaking outcomes: The network has facilitated 85 clinician–scientist connections and funded 105 projects.
• International linkage: Connections and sharing of registry and committee structures with emerging networks in Europe, Australia, and Japan.

Scientific Applications:

• Variant pathogenicity confirmation: Enabling functional studies in model organisms to assess the pathogenicity of patient-derived variants.
• Elucidation of molecular mechanisms: Using model-organism experiments to define biological mechanisms underlying rare-disease phenotypes.
• Preclinical testing of therapeutics: Facilitating initial testing of novel therapeutic approaches in model systems.
• Capacity building for long-term research: Establishing sustained clinician–scientist collaborations for ongoing rare-disease research.

Methodology:

The approach uses an open-source registry of >500 model-organism scientists covering >7,500 human genes and a structured committee process to evaluate and fund clinician–MO scientist collaboration proposals (catalyst awards up to 25,000 CAD).