European Joint Programming on Rare Diseases
The European Joint Programme on Rare Diseases brings over 130 institutions 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 most importantly, adapting them to the needs of end-users through implementation tests in real settings. To achieve this goal, the European Joint Programme on RD (EJP RD) has two major objectives:
(i) To improve the integration, efficacy, production and 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;
(ii) 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 the benefit of patients.
To this end, the EJP RD actions will be organized within four major Pillars assisted by the central coordination and transversal activities: (Pillar 1): Funding of research; (Pillar 2): Coordinated access to data and services; (Pillar 3) Capacity building; (Pillar 4): Accelerated translation of research projects and improvement outcomes of clinical studies.
CSC's capabilities have to evolve with the demands of its customer base. The Finnish research system contains a network of Rare Diseases experts that are not known very well at the moment, and they will be contacted based on the Linked Third Party role of CSC (ELIXIR-FI) in European Joint Programming in the field.
The focus of CSC (ELIXIR-FI) effort is to reach out to the national Rare Diseases research requirements and to communicate these needs and national solutions in the context of EJP. We will contact the University of Helsinki, Helsinki University Hospital and Biocenters hosted in five Finnish universities, and connect their researchers to the European Joint Programming in Rare Disease Field coordinated in the project. We will use the existing infrastructure of the Funet national network backbone and related services; a computing and storage platform; a data centre facility; and Pouta cloud service platform. A platform for long-term availability, storage and preservation of sensitive research data and digital archives will be planned in collaboration with the Nordic e-Infrastructure Collaboration (NeIC), the European life sciences infrastructure for biological information (ELIXIR), the Partnership for Advance Computing in Europe (PRACE), and the European Open Science Cloud (EOSC-LIFE) to make national infrastructures interoperable with the international ones.
At CSC, EJP-RD project is part of the ELIXIR programme.
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 825575.