Competition year : 

Deadline (pre-request) : 
February 16th, 2022 at 16:00 (EST)

Deadline (application) : 
June 15th, 2022 at 16:00 (EST)

Announcement of results : 
December 2022

Amount : 
$CAD150 000 per year

Duration : 
Maximum 3-years non-renewable


EJP RD network partners (including CIHR-IG)


The information provided in this pre-announcement is indicative, may be subject to changes, and is not legally binding to funding organisations. Additional funding organisations might join the call before the official publication.

Interested applicants are encouraged to initiate scientific contacts with potential project consortium partners for applications.

The final call information is now available on the EJP RD website since December 14th, 2021.

The EJP RD (E-RARE) network, in which the Fonds de recherche du Québec – Santé (FRQS) is a partner, is launching a multilateral joint transnational call for proposals to support research in the field rare diseases.

“Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases”

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with expected impact to use the results in the future for benefit of patients.

More specifically, the research projects have to focus on Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases.

Transnational research proposals should cover at least one of the following areas:

  1. Phenotype-driven diagnosis: integration across different ontologies, integration of shared pathways, digital phenotyping, development of artificial intelligence approaches/applications to extract health-related data in aid of diagnosis;
  2. Prognostic markers/biomarkers investigations for early diagnosis and monitoring;
  3. Methodologies for solving cases that are currently difficult to analyze due to different underlying mechanisms (e.g. mosaicism, genomic (non-coding) alterations, gene regulation, complex inheritance), including new genomics / functional genomics technologies, multi-omics, mathematics, biostatistics, bioinformatics and artificial intelligence approaches;
  4. Functional strategies to globally stratify variants of unknown significance (VUS) for clinical use; setting up of (in vitro) systems to distinguish between VUS and pathogenic variants (e.g. confirming disruption of splicing for deep intronic variants, loss of protein function, and gain of toxic protein function);
  5. Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.

It is possible to use cellular and animal models for validation of the new diagnostic approaches in the subtopics listed on the Call text where relevant. Furthermore, additional elements need to be considered in the application. Please consult the extended information of the Call on EJP RD JTC2022 webpage.

The following approaches and topics are excluded from the scope of the call JTC2022:

  • Interventional clinical trials to prove efficacy of drugs, treatments, surgical procedures, medical technology procedures. This also includes studies comparing efficacy, e.g. two surgical techniques or therapies. Clinical phase IV pharmacovigilance studies cannot be funded either.
  • Studies on the exclusive testing of the safety of medical devices.
  • Development of new therapies as covered in EJP RD JTC 2020.
  • Projects focusing only on rare neurodegenerative diseases which are within the main focus of the Joint Programming Initiative on Neurodegenerative Disease Research (JPND). These are: Alzheimer’s disease and other dementias; Parkinson’s disease (PD) and PD-related disorders; Prion diseases; Motor Neuron Diseases; Huntington’s disease; Spinal Muscular Atrophy and dominant forms of Spinocerebellar Ataxia. Interested researchers should refer to the relevant JPND calls. However, childhood dementias/neurodegenerative diseases are not excluded.
  • Rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases. Rare diseases with a predisposition to cancer are not excluded.

Early-Career Scientists (Junior Researchers) – FRQS definition
Early career researchers (Junior 1 and Junior 2) are encouraged to submit an application as a Principal Investigator (the Junior status begins no more than six (6) years after obtaining a Ph.D. and lasts no more than eight (8) years).
Postdoctoral trainees cannot apply to this Competition as Investigators.

National/Regional Eligibility

Comply with the requirements of the FRQ Common General Rules to be eligible for the program.

All candidates eligible to receive funding from the FRQS wishing to apply to this program as a Quebec Principal Investigator must complete an FRQNet e-form via the e-portfolio under the Available competition section.

All candidates eligible to receive funds from the FRQS wishing to participate to this program as a Quebec Co-Investigator must give their consent in the FRQNet e-form via the e-portfolio under the As Co-Investigator section.

The deadlines for submitting a proposal follow those of the European call.


The FRQS is pleased to collaborate with the Canadian Institutes of Health Research – Institute of Genetics (CIHR-IG) and near of 30 other international funding organizations in the framework of the European joint program on rare diseases.

Researchers based in Quebec are eligible for receiving co-funding from FRQS and CIHR as part of this call for projects. Both agencies will maximize their funding effort. The combined maximum total amount per project must be not exceeded.

Please note: In addition to submitting a short e-form with the FRQS, you MUST also submit a short application form with CIHR in order to be eligible to receive funding from both agencies. For more details, please visit the CIHR Funding Opportunity webpage.


Specific conditions and requirements may apply for each of the funding agencies. Those are available on the EJP RD JTC2022 call websites.


By submitting a proposal to this competition, you agree to allow the FRQS and partner agencies to share and cross checks the information contained in your proposal. Principal investigators must ensure that all co-investigators and/or collaborators are aware of the rules regarding the sharing of the information contained in the proposal. There will be no sharing of confidential or sensitive personal data (gender-specific data).

The information provided on the content of the call is indicative and may be subject to changes. Please refer to the official documents of the call on the European website.

For more information, please visit the EJP RD website.