[ SNSF - European Joint Programme on Rare Diseases - Call for joint research projects ]

The European Joint Programme on Rare Diseases (EJP-RD) is launching a new joint transnational call for research projects on “Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases”.

A number of national and regional funding organisations participate in the EJP RD Joint Transnational Call (JTC) 2022 and will fund multilateral research projects on rare diseases under the EJP-COFUND action. For Switzerland, the SNSF is the Funding Agency.

Projects shall focus on a group of rare diseases or a single rare disease following the European definition i.e., a disease affecting not more than five in 10.000 persons in the European Community, EC associated states, Australia and Canada.
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.

• Consortia must involve 4-6 eligible PIs from at least 4 different participating countries. No more than two eligible partners from the same country can be present in each consortium.
• All partners in a consortium are supported by the research funding organisations of their respective countries or regions and must follow the country-specific guidelines included in the call document (see p.69).
• Applicants from Switzerland must be eligible for SNSF project funding. Please have a look at the EPFL Toolkit for Project Funding. The SNSF invites you to contact them ([email protected]) to verify your eligibility, unless you hold a Project Funding grant already.

• 16 February 2022, at 2 pm (CET): pre-proposal submission deadline
• End April 2022: Invitation to submit a full proposal
• 15 June 2022: full proposal submission deadline
• December 2022: notification of funding decision