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Transnational research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases (EJP Rare Diseases)

Funding programme
Submission deadline
Funded by
BMBF and other funding organisations


  • A gene is a hereditary unit which has effects on the traits and thus on the phenotype of an organism. Part on the DNA which contains genetic information for the synthesis of a protein or functional RNA (e.g. tRNA).
  • Being lytic is the feature of a bacteriophage leading to the destruction (lysis) of the host cell upon infection.
  • Physiology is the study of the biochemical and physical processes in cells, tissues and organs of creatures.
  • A protein domain is a conserved, structurally well-defined sequence in a polypetide chain. It has a unique folding an therefore a specific function. Proteins often have several of these damains and as a whole they determine the function of the protein.

There are at least 7000 distinct rare diseases, the great majority being of genetic origin. Although individually rare, taken together rare diseases affect at least 26-30 million people in Europe. Moreover, they represent a major issue in health care: a large number of these diseases have an early or very early onset and/or lead to a significant decrease of life expectancy. Moreover, most of them cause chronic illnesses with a large impact on quality of life and the health care system.

The specificities of rare diseases - limited number of patients per disease, scarcity of relevant knowledge and expertise, and fragmentation of research - single them out as a distinctive domain of very high European added-value. Rare diseases are therefore a prime example of a research area that necessitates collaboration/coordination on a transnational scale.

In this context, the ERA-Net E-Rare has successfully implemented ten Joint Transnational Calls for rare disease research projects since 2006. This effort is now continued in the frame of the European Joint Programme on Rare Diseases (EJP RD) that has been established 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).

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 a clear benefit for patients.

Topic: Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases.

Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:

a. Research to accelerate diagnosis, e.g.:

  • New schemes for finding diagnosis for undiagnosed patients;
  • Improved annotation and interpretation of variants and development of diagnostic tests for the more prevalent variants;
  • Novel modalities of functional analysis of candidate variants through in vitro, cell, tissue or animal studies.
  • -omic or multi-omic integrated approaches for discovery of disease causes and mechanisms including development of relevant bioinformatic tools;

b. Research to explore disease progression and mechanisms, e.g.:

  • Natural history studies and patient registries (also for clinical trial readiness). Whenever possible these should include development and use of patient reported outcome measures. In addition, the exploration of the use of standardized M-Health-based surveillance instruments and of patient entered data to gather information for natural history studies is welcome;
  • Identification of clinical biomarkers, clinical outcome measures and surrogate endpoints;
  • Identification of novel pathophysiological pathways in appropriate disease models that effectively mimic the human condition.

Projects shall involve 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 and Canada.

The research projects submitted within this call must be based on novel ideas stemming from consolidated previous results or preliminary data and must be clearly endowed with benefit for the patients, i.e. studies allowing a rapid implementation into public health-related decisions or into the clinics.

Joint research proposals may be submitted by partners belonging to one of the following categories (according to country/regional regulations):

  • academia (research teams working in universities, other higher education institutions or research institutes)
  • clinical/public health sector (research teams working in hospitals/public health and/or other health care settings and health organisations)
  • enterprise (all sizes of private companies). Participation of small and medium- size enterprises (SMEs) is encouraged when allowed by national/regional regulations
  • patient advocacy organisations (PAOs - see more information below and refer to the INSERM contact point)

There will be a two-stage submission procedure for joint applications: pre-proposals and then full proposals. In both cases, one joint proposal document (in English) shall be prepared by the partners of a joint transnational proposal, and must be submitted to the JCS by uploading it on the electronic submission system by the coordinator.

Joint pre-proposals (in English) must be received by the JCS in an electronic version no later than February 15, 2019 at 05 p.m. Central European Time (CET).

Website address: https://www.gesundheitsindustrie-bw.de/en/database/funding/transnational-research-projects-to-accelerate-diagnosis-andor-explore-disease-progression-and-mechanisms-of-rare-diseases-ejp-ra/