Project structure

The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions (including all 24 ERNs)  from 35 countries:

  • 26 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Croatia, Ireland, Italy, Netherlands, Latvia, Lithuania, Luxembourg, Malta, Poland, Portugal, Romania, Spain, Sweden, Slovakia, Slovenia)
  • 7 associated (Armenia, Georgia, Israel, Norway, Serbia, Switzerland, Türkiye)
  • Uk & Canada

to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

As recognized by the Council Recommendation 2009/C 151/02, rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients.

In the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centers in European Reference Networks, it appears crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling up, linking, and adapting them to the needs of end-users through implementation tests in real settings. To achieve this goal, the EJP RD has two major objectives:

  1. To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how
  2. To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients.

To this end, the EJP RD actions are organized within five major Pillars assisted by the central coordination and transversal activities:

Pillar 0: Coordination, Transversal Activities & Communication

Pillar 1: Fundings and Calls

Pillar 2: Coordinated Access to Data and Services

Pillar 3: Training and Empowerment

Pillar 4: Innovation and Clinical Trials Support 

WP1Coordination and managementINSERMPL0
WP2Integrative research and innovation strategyISCIII / ISSPL0
WP3Sustainability strategy and business planINSERM / EATRIS / ISCIIIPL0
WP4Ethical, regulatory, legal and IPR framework of the EJP RDFGB / FTELEPL0
WP5Communication & disseminationINSERMPL0
WP6Joint Transnational Calls for collaborative research projects DLRPL1
WP7Networking to share knowledge on rare diseasesZonMwPL1
WP8Rare Disease Research ChallengesFFRDPL1
WP9Monitoring of funded projectsCSO-MOHPL1
WP10User-driven strategic planning and transversal activities for PL2 data ecosystemINSERMPL2
WP11Common virtual platform for discoverable data and resources for RD researchINSERM / CNAGPL2
WP12Enabling sustainable FAIRness and Federation at the record level for RD data, patients
and samples
WP13Enabling multidisciplinary, holistic approaches for rare disease diagnostics and
WP14Training on data management & qualityISSPL3
WP15Capacity building and training of patients and researchers in Rare Disease research and
WP16Online Academic education courseFFRDPL3
WP17ERN RD training and support programmeEKUTPL3
WP18Development and adaptation of training activitiesVUHSK / IPCZ / EURORDISPL3
WP19Facilitating partnerships and accelerating translation for higher patient impactEATRIS / FTELEPL4
WP20Accelerating the validation, use and development of innovative methodologies tailored
for clinical trials in RDs
WP21Ethics requirementsINSERMPL0