The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions (including all 24 ERNs) from 35 countries 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:
- 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
- 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: Transversal and 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.
Pillar 2 “Coordinated Access to Data and Services for transformative rare diseases (RD) research” aims at rationalizing, optimizing and increasing potential of existing resources and services, in order to decrease fragmentation and maximize European capacity to make better and more efficient research on RD . Pillar 2 will develop a FAIR Virtual Platform for RD allowing to find and query relevant resources (catalogues of registries, biobanks, data deposition platforms, animal models, cell lines and service infrastructures) and research data, samples, tools and standards to support and accelerate rare diseases research.
As omics become more prevalent in clinical practice, Pillar 2 will set mechanisms to continuous integration of new data elements, standards and tools so as to provide European research with a unique ecosystem that will efficiently translate research into better care and medical innovation. In addition, pilot and proof-of-concept projects will be put in place to enable multidisciplinary, holistic approaches for rare disease diagnostics and therapeutics and fostering creation of complete diseases pathways.
The usefulness of the developed tools and their upscaling will be ensured through mechanisms that places end-users, not least European Reference Networks (ERNs), at the driver seat in strategic planning. Researchers, including those in funded research projects (Fundings and Calls) will benefit from the Virtual Platform to access and query data and resources, and to deposit their research results.