Rare Diseases Models and Mechanisms International
RDMM International

About Us

Although rare genetic diseases are individually rare, they are collectively common, affecting as much as 3% of the world population. In aggregate, they present great healthcare challenges, contributing significantly to morbidity, mortality, and cost of care. The application of next-generation DNA sequencing technology has brought an unprecedented era of rare disease gene discovery (~300 new rare disease genes per year). Following a disease gene discovery by a clinician scientist, key immediate goals are to understand the underlying molecular pathways and the reversibility of the phenotypes in genetic and pharmacologic rescue experiments.

Model organisms (MO) provide powerful tools for investigating the mechanistic basis of diseases, for identifying and developing potential therapeutic interventions, and for evaluating new treatments. Therefore, it is important to establish efficient mechanisms for catalyzing connections, collaboration, and cross-talk between clinician and basic scientists, immediately following a new rare disease gene discovery.

In the past several years, several Rare Diseases Models and Mechanisms (RDMM) regional networks emerged, established to expedite collaborations between clinicians discovering new rare disease genes and model organism scientists (MOS) able to conduct immediate functional characterization of those genes. The collaborations facilitated by these networks not only help confirm the pathogenicity of variants and unravel the molecular mechanisms of rare diseases, but also test novel therapies, lead to high impact publications, long-term collaborations, and additional new funding opportunities.

Networks

RDMM Regional Networks with funding

The Canadian Rare Disease Models & Mechanisms Network (RDMM-Canada) uses a committee process to identify and review potential clinician-MO scientist collaborations and approve $25,000 CAD in catalyst funding. RDMM accepts gene connection applications from Canadian clinicians, as well as “unmatched” clinicians from the other RDMM networks, for connection to a Canadian MO scientist. Funding can be awarded only to Canadian MOS.

RDMM MOS Registry

The Australian Functional Genomics Network (AFGN) , similar to Canadian RDMM, uses a committee process to review and identify a suitable match between a clinical and a model system research team. The award amount is $15,000-60,000 AUD. The AFGN accepts connection applications from Australian clinicians, with scope to expand to unmatched clinicians from the other RDMM networks in the future. Funding can be awarded only to Australian MOS.

AFGN MOS Registry

The Singapore Rare Disease Models and Mechanisms (SG RDMM) Network is set up with the goal of connecting basic researchers and clinicians across Singapore to expedite the molecular understanding of genes causing rare diseases. The network aims to be a platform where researchers and clinicians engage and participate in gene discovery and generation of model systems leading to deciphering of molecular pathways. The ultimate goal of the network is to identify therapeutic interventions that will benefit patients with rare diseases. Each year, the SG RDMM network issues a call for proposals of up to $50,000 Singapore dollars, to be awarded to collaborations between clinicians and MOS aimed at generating preliminary data in support of larger grant proposals. Both have to be part of the SG RDMM, with at least 75% appointment in a Singapore institution and at least one PI from SingHealth.

SG RDMM MOS Registry

The European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established by Solve-RD, an EU-funded research project, with the goal to boost research in rare diseases. RDMM-Europe has a similar committee structure and process as the Canadian RDMM. The available funding is 20,000 EUR per project. RDMM-Europe accepts connection applications from clinicians from a Solve-RD beneficiary or associated partner institution. Funding can be awarded to a MO scientist registered in any of the RDMM networks (except to the Solve-RD beneficiaries) as well as ModelMatcher.

RDMM-Europe MOS Registry

This program ended in 2022.

The Japanese Rare Disease Models & Mechanisms Network (J-RDMM) is a project supported by Japan’s Initiative on Rare and Undiagnosed Diseases (IRUD). The matching between clinicians and MOS happens in a similar way as in other regional networks, under the supervision of a Research Coordination Committee. The available funding is $12,000 US for one gene or $20,000 US for two or more genes. Both clinicians and MOS have to be associated with IRUD.

J-RDMM MOS Registry

(static data as of February 2022)

Global matchmaking platform (no funding)

ModelMatcher is a global matchmaking platform aiming to facilitate research on rare and undiagnosed disease. The platform has two aspects: Scientist Registry, where scientists with expertise in specific genes create their accounts, and Match Dashboard, where anyone who seeks to connect with a scientist (clinicians, patients, funding agencies) create their accounts. There are no regional restrictions in registering an account and no committee review process or funding available for connections made. Scientists who do not use MO (e.g. cell biologists, biochemists, structural biologists, bioinformaticians) can also register in ModelMatcher. MOS who are registered in one of the regional RDMM registries and who have “public” privacy profiles will be automatically discoverable in ModelMatcher.

ModelMatcher Registry

Other Community Members

Undiagnosed Disease Network-MO Screening Centers (UDN-MOSC) has a similar mission to the RDMM networks, but uses a different paradigm for connecting clinicians with basic scientists in the United States, that involves MO core facilities for modeling disease gene variants. UDN clinical sites submit candidate genes to the MOSCs, and high priority candidates are chosen to be studied in one of the C. elegans, Drosophila, or Zebrafish core facilities.

Undiagnosed Diseases Network (UDN)

The Pediatric Cancer Models and Mechanisms (PCMM) Network is a Canadian national platform dedicated to catalyzing collaboration between pre-clinical and clinical researchers studying pediatric cancers. The network aims to drive the development of new therapies and approaches to enhance the understanding, detection, diagnosis, and treatment of pediatric cancers. The PCMM Network has adopted similar procedures to those used by RDMM-Canada and utilizes the same registry software to efficiently gather information on pre-clinical researchers, including the specific tumor types they study and the experimental models and technologies they use.

PCMM Registry

The emergence of these regional and global networks has allowed sharing of best practices and linkage into a larger international "network of networks" with the goals of facilitating data sharing and enabling clinician-scientist matching.
Network name Accepts genes from Matched Model Organism Scientists (MOS) Funding Amount per Match
RDMM Canada anywhere Canadian MOS yes $25,000CAD
AFGN all RDMM partners Australian MOS yes $15,000-60,000AUD
SG RDMM SG RDMM clinicians SG RDMM MOS yes $50,000SGD
RDMM-Europe only Solve-RD beneficiaries anywhere yes 20,000EUR
J-RDMM IRUD clinicians IRUD MOS yes $12,000-20,000US
ModelMatcher anywhere anywhere no n/a

How can MO Researchers and Clinicians Join the Network of Networks?

Clinicians are encouraged to submit their gene connection application to their regional RDMM network, however some of the networks are accepting applications outside their borders on an ad hoc basis. MO researchers who reside in countries that do not have a regional RDMM can register their expertise in ModelMatcher.

MO researchers are encouraged to register their expertise in their regional RDMM Registry. The registration enables them to be linked to clinicians discovering disease genes in patients with rare disease and to be considered for grant funding. MO researchers who reside in countries that do not have a regional RDMM can register their expertise in ModelMatcher.

All regional RDMM registries are interconnected and are able to seamlessly share data in a secure way and based on a user’s preferences. Thus, the registration in one of the regional registries is sufficient to make a MO researcher discoverable across all of them. In addition, users with the public data privacy setting are also discoverable in ModelMatcher, where they can get connected to clinicians, patients, funding agencies, and non-profit organisations across the world.

Clinicians who want to search directly for MO research collaborators can do so either through any of the regional RDMM registry’s public search websites or by registering in the ModelMatcher Match Dashboard. MOS who want to actively search for clinical collaborators are also encouraged to create a Match Dashboard account which will allow them to send match requests to Matchmaker Exchange network.

How Can New Regional RDMM Networks be Established?

All regional RDMM networks, as well as ModelMatcher, use the software initially developed for Canadian RDMM by the Pavlidis lab at the University of British Columbia. The software is open source and includes extensive customization features to allow flexible re-use. The platform has an application programming interface (API) that enables remote querying and fetching of data between different software instances, restricted by the appropriate security settings. This enables seamless sharing of data, while the API also enables public data to be accessed by third-party applications and resources. The software is available here.

In addition, we freely share our committee structures and processes, and are willing to assist emerging RDMM regional networks as needed.

Publications

  • Boycott et al. “The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.” American Journal of Human Genetics vol. 106,2 (2020): 143-152.

  • Zurek et al. “Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.” European Journal of Human Genetics: EJHG vol. 29,9 (2021): 1325-1331.

  • Harnish et al. “ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.” Hum Mutat. 2022 Feb 27. doi: 10.1002/humu.24364.

  • Baldridge et al. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 May 7;16(1):206.

  • Wangler at al. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 Sep;207(1):9-27.

Images courtesy of ModelMatcher
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