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

(Sólo para personal IdISSC)

  • Fecha límite para presentar solicitudes: Presentación en 2 etapas. La fecha límite de presentación de la 1º etapa: 16th February 2022. El plazo de presentación de solicitudes a la FIBHCSC finalizará el 8 de Febrero de 2022.


    Instituto de Salud Carlos III (entidad financiadora en España)


    2M €

Ámbito: Internacionales
Tipo: Públicas
Área: Proyectos de I+D+i
Entidad Financiadora: Instituto de Salud Carlos III (entidad financiadora en España)


The European Joint Programme on Rare Diseases (EJP RD) has successfully implemented three 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.
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


Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases
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 above where relevant. Furthermore, additional elements need to be considered in the application:
 The design of the study (sample collection, statistical power, interpretation, relevant models for hypothesis validation) must be well justified and has to be part of the proposal;
 For natural history studies and patient registries: strategies and timelines for patient recruitment, retention, assessment, and analysis must be included. Data supporting the proposed recruitment numbers is mandatory. The study design and objectives should take into consideration what information regarding the rare disease population would be needed in order to pursue clinical trials or other health care related studies in that rare disease. There always need to be clear research questions that are addressed in the study/registry. Clear plans for sustainability of the resources must be described. Consideration of common data elements as outlined in the recent publication “Set of Common Data Elements for RD Registration”;
 Integration of appropriate bioinformatics and statistical skills should constitute, whenever justified, an integral part of the proposal, and the relevant personnel should be clearly specified;

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.


Investigadores que tengan un proyecto financiado por la EJP RARE DISEASE activo durante 2023 no podrán participar en esta convocatoria, excepto si participan como coordinadores de la solicitud. Las propuestas deberán ser presentadas por consorcios constituidos por un mínimo de tres entidades independientes entre sí pertenecientes a, al menos, tres países participantes diferentes de entre los participantes en el programa, siendo al menos dos de ellos miembros de la Unión Europea o países asociados.
El número máximo de socios en un consorcio es de seis. Durante la segunda fase de solicitud el consorcio se podrá ampliar hasta los siete socios, únicamente si se incluye uno de los países con menor representación (el listado de estos países será enviado al coordinador durante la segunda fases de solicitud).
No podrá haber más de dos entidades pertenecientes al mismo país dentro de un mismo consorcio, incluyendo socios que participen bajo su propia financiación.