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
- One of the most important short-term impacts achieved by the EJP RD is the establishment of strong collaboration with the European Reference Networks. The inclusion of ERNs in the EJP RD allows on progressive empowerment of the ERNs in their research capacities and close alignment of the EJP RD activities (e.g. development of the Virtual Platform) with the requirements of the users. Mapping of ERNs strengths, gaps and research needs enabled the implementation of dedicated support (e.g. for ERN registries implementation, FAIRification of their resources) and research projects (e.g. use cases for multi-omics pathways). Thus, it can be already demonstrated that by bringing all stakeholders and available resources under one umbrella EJP RD decreases fragmentation of expertise and enhances its power at EU level.
- The creation of EJP RD Virtual Platform and putting resources together at work in order to make them discoverable and queryable (for the needs of VP) improved directly each of the resources by standardizing their data and making them more easily accessible/usable and thus by increasing their respective intrinsic quality for the benefit of rare diseases research community.
- The training activities implemented by the Pillar 3 were expanded and adapted to the needs of the EU13 countries, thereby offering additional opportunities to train new experts and improve the training programmes by making them more inclusive. Similarly, dedicated widening measures applied in the Joint Transnational Calls allowed inclusion of research teams from underrepresented countries in high quality research consortia and successful funding of their research projects.
- Year 2 resulted in expansion of collaboration with Connect4Children paediatric community of experts. It also opened the door to collaboration with STARS (Strengthening Regulatory Science) programme supported by EMA and National Competent Authorities, to expand the access to the expertise provided within EJP RD. By connecting with new networks of experts EJP RD directly contributes to the increase of the visibility of specific knowledge and facilitates the access to this expertise for RD community.
- Pillar 2 efforts on decreasing fragmentation of research resources translated through the improved usability of 16 resources for RD specific research use cases.
- Thanks to the EJP RD extensive and rapidly available network of experts, EJP RD was able to provide support to a family with rare disease child that was looking to obtain advice on the research projects they decided to finance optimize them, initiate additional collaboration). In addition, thanks to the EJP RD network they were able to connect to other families and patient organization as well as profit from a training. It is a perfect example of how EJP RD builds a really efficient ecosystem that benefits patients and their families.
- In year 2, despite the challenges due to the pandemic, Pillar 3 has trained 244 stakeholders. The development of a coherent training programme in Pillar 3 helps to decrease the fragmentation by structuring the organization and access to already available and relevant trainings for the RD community in Europe.
- In year 3 EJP RD continued to expand expertise on rare diseases by supporting research project in themes that were identified of major importance for rare diseases community and which, until now, were not sufficiently addressed. Moreover, the Medical Research Future Fund from Australia decided to join EJP RD joint transnational call 2022 allowing on further expansion of RD knowledge and collaboration beyond the frontiers of Europe. EJP RD pursued its support and increase widening (46% of beneficiaries in EJP RD are widening countries) by providing dedicated fellowship, access with no fee and adaptation of its trainings (biobanking, train the trainer model for Orphanet ontology courses) to the needs of under-represented countries (22% of all training courses were provided in EU13 countries). Finally, measures for patient-centeredness in RD research were supported by variety of trainings targeting patients and mixed groups of stakeholders and considerable growth of participation of Patient Advocacy Organisations (PAO) in funded research projects – 92 PAOs over three years.
- 19 new developed functionalities, series of webinars, new trainings and documentations have improved the access and usability of 11 resources addressing RD research specific needs.
- The Pilot on data mapping between trans-Atlantic RD registries, conducted by EJP RD and C-PATH experts, was successful in liking the various datasets allowing to extract their data. This enabled interoperability between two large international clinical & Research initiatives