European Joint Programme on Rare Diseases (EJP RD) Joint Transnational Call (2022): “Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases”

Rare diseases represent a major issue in health care with at least 26-30 million people affected in Europe. Research is needed to provide knowledge for prevention, diagnosis, better care and everyday life improvement for patients. Given the limited number of patients per disease, scarcity of relevant knowledge and expertise, and fragmentation of research, rare disease research necessitates collaboration and coordination on a transnational scale. The European Joint Programme on Rare Diseases (EJP RD) was established in 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 Diseases Research Consortium (IRDiRC). This fourth call of the European Joint Programme on Rare diseases aligns with the vision and goals set by IRDiRC. It seeks to encourage collaboration towards the development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases.

Please see the Call Text on the EJP RD website for further details. 

Additional Information

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 following types of research projects are excluded from the scope of EJP RD 2022:

  • 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.

Please review the published call text for full details of the research areas, aim, objectives and scope of the call on the EJP RD website.


Only lead applicants from Ireland working in a recognized HRB Host Institution are eligible for HRB funding in this call. Please see Policy on Approval of HRB Host Institutions.

Researchers from Ireland can apply as coordinators or partners. If successful, researchers from Ireland will be funded by the Health Research Board up to the maximum amount for the call. 

Individual country partners/coordinators should confirm eligibility with their national funding organisation contact point. 

Main Eligibility Criteria

  • Only transnational projects will be funded.
  • Each consortium must involve four to six eligible principal investigator partners from at least four different countries participating in this call.
  • Each proposal must involve a minimum of four and a maximum of six partners* (principal investigators) eligible for funding. 
  • A consortium must not involve more than two eligible principal investigator partners from the same country. 
  • Further national/regional limits may apply. See “Guidelines for Applicants” on the EJP RD website.

* The number of principal investigator partners can be increased to eight in two cases:

  • The inclusion of partners from participating countries usually underrepresented in projects (Slovakia, Hungary, Lithuania, Poland, and Turkey). 
  • The inclusion of Early Career Researchers* as full principal investigator partners.

*See “Guidelines for Applicants” on the EJP RD website for country and region-specific guidelines.

Consortia are strongly advised to include patient representatives and patient advocacy organizations (PAOs). 


Electronic proposal submission is mandatory on: PT-Outline (

Full details on the call for proposals, including scope of the call, evaluation process, eligible costs and participating countries are available on the EJP RD website  Applicants from Ireland must read the HRB Guidance notes and FAQ’s for the scheme-eligibility requirements for applicants from Ireland. 

  • Whilst applications will be submitted jointly by groups from different countries, individual research groups in successful projects will be funded by the individual EJPRD funding organisation(s) within their country.

There will be a two-stage submission procedure for joint applications: a pre-proposal and full-proposal stage. Proposals must be written in English and must be submitted to the Joint Call Secretariat (JCS) by the project coordinator via the electronic submission system. Research consortia who intend to submit a transnational project proposal should register as soon as possible via the electronic proposal system: PT-Outline (

(See EJP RD website for further details)


General Queries: Joint Call Secretariat (ISCIII Spain):

Ignacio Baanante
email: ibaanante(at)

Maria Druet
email: mdruet(at)

Applicants from Ireland who still have questions after reading the information on the Call website, the HRB Guidance notes and HRB FAQ’s can contact Dr Louise Drudy at HRB, email: 

Opening date
12:00 15-12-2021
Closing date
13:00 16-02-2022