Topic: SC1-BHC-04-2018, Rare Disease European Joint Programme Cofund
Type of Action: CSA
Duration: 60 months
Start date: 1 Jan 2019
Total request Grant by Consortium: €55,582,724.77
Total request Grant by BBMRI-ERIC: €1,620,071.26 (including funds for linked third parties)
Linked Third Parties/BBMRI-ERIC Framework Agreement: TUM, CRS4, MUG, THL
Benefit/tasks for BBMRI-ERIC: BBMRI-ERIC will lead tasks on technical GDPR implementation (Task 10.3) and Quality oversight (Task 10.4), and it will contribute to federated searches architectures (Tasks 11.2 and 12.1), machine readable access (Task 12.1), integration of existing services into Orphanet catalog (Task 11.1), and brokering hosting services for FAIR data provisioning (Task 12.3).
Within Pillar 3, BBMRI-ERIC will contribute with its expertise in ethical, legal and societal matters related to rare diseases. In particular, it will share its experience in operating the custom based ELSI Helpdesk and self-service Knowledge Base. Additionally, BBMRI-ERIC commits to host a 3-day training workshop in Graz ensuring awareness raising and appropriate knowledge transfer (Task 14.4).
The European Joint Programme on Rare Diseases brings over 130 institutions from 35 countries: 27 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Croatia, Ireland, Italy, Netherlands, Latvia, Lithuania, Malta, Poland, Portugal, Romania, Spain, Sweden, Slovakia, Slovenia, United Kingdom), 7 associated (Armenia, Georgia, Israel, Norway, Serbia, Switzerland, Turkey) and 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 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, 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;
(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 benefit of patients.
To this end, the EJP RD actions are 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 resources;
Pillar 3: Capacity building;
Pillar 4: Accelerated translation of research projects and improvement outcomes of clinical studies.
EJP RD is funded by the European Union’s Horizon 2020 research and innovation programme under grant agreement No 825575.