Specific impact 2: Decrease fragmentation of rare diseases expertise and research resources

Through the participation of 89 partners including policy makers, funders, research organizations, ERNs, infrastructures and patients from 35 countries, EJP RD programme is unique in achieving centralised critical mass of expertise and research resources from Europe and beyond.

The long-standing collaboration (2006 – 2019) of funding agencies in EU member, associated and non-EU states in the ERA-Net E-Rare resulted in ten Joint Transnational Calls funding 117 projects including 556 research teams. Each of these projects proved the capacity to achieve critical mass in pooling resources (data, samples, expertise and patients) to perform high quality research. At least 77% of these projects established long-lasting collaborations, often extended to other research groups and countries. Progressive joining of new countries allowed pooling of national resources and better coordination of research programmes on rare diseases. EJP RD goes beyond E-Rare by integrating 11 new agencies (total of 29 covering 23 countries) and expanding further the power of international collaboration of funders to support and encourage excellent (national/regional) research groups to collaborate transnationally in the area of rare diseases. Thus, activities of Pillar 1 will be major leverage action to decrease fragmentation and increase potential of expertise and research resources.

European Pillar 2 partners are already leading global endeavours (Orphanet, HPO, FAIR data principles and metrics) or are deeply involved in global initiatives (IRDiRC, MME, Beacon, GA4GH, of which EJPRD is a Driver Project). Consolidating their efforts into the Pillar 2 work will maximize their impact and constitute an unprecedented resource that will establish a new paradigm for conducting research in the RD field, and could be a model for other domains. Europe will demonstrate that synergizing efforts by building a structuring long-lasting ecosystem of data and resources across domains (healthcare and research) but also linking national and transnational levels has a direct impact in clinically applicable discovery and innovation. In particular, close collaboration with European initiatives like the 1-Million Genomes project and the European Health Data Space, as well as the integration of European reference Networks in EJP RD activities, is a unique configuration that will reinforce the European leading role in RD research.

As for the other EJP RD elements, the strength of Pillar 3 is based on bringing together fragmented but already existing EU capacities and organizing them in a coherent and efficient RD training and education landscape. Furthermore, the EU potential will be expanded by seizing and creation of novel, first-in-class trainings.

The highly multi-disciplinary, outcome-oriented approach to the EJP RD in general, and specifically in Pillar 4, will augment Europe’s world class output in RD research and development. The outstanding outputs to be expected from the efforts in Pillars 1,2 and 3 will create a rich seedbed of knowledge, which will be supported by Pillar 4 on the long journey from publication to patient. P4’s combination of active support to today’s projects, combined with a systematic tackling of serious systemic roadblocks to innovation, will cement Europe’s lead in RD research and innovation.

Yearly updates on impact 2