The European Joint Programme on Rare Diseases (EJP RD) has successfully implemented two Joint Transnational Calls since 2019 to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC). These actions are following the ten Joint Transnational Calls for rare diseases research projects launched previously by the ERA-Net E-Rare since 2006.
2022 topic & aim
Topic: 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.
- Research proposals should cover at least one of the following areas:
- 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;
- Prognostic markers/biomarkers investigations for early diagnosis and monitoring;
- 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;
- 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);
- Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.
The FNR supports Luxembourg partners in this Call with a maximum of 300,000 EUR.
If you are interested in finding consortium partners to submit a proposal, please consult the matchmaking tool for the 2021 EJP-RD call
Both pre- and full proposals must be written in English and must be submitted to the Joint Call Secretariat (JCS) by the coordinator through the electronic submission system exclusively. Specific information to follow.
In addition, Luxembourg partners must submit both pre and full proposals, along with the FNR INTER Call documents to the FNR no later than 7 working days after the EJP-RD deadline. Applications to the FNR must be submitted via the FNR’s Online Grant Management System.
|16 February 2022||Pre-proposal submission deadline|
|End of April 2022||Invitation to full proposal|
|15 June 2022||Full proposal submission deadline|
|28 July 2022||Deadline for rebuttals|
|December 2022||Notification of funding decision|