The EJP RD is exemplary to the world in bringing together the various expertise on research and innovation of rare diseases from so many institutions, clinicians, researchers and patient organisations in one programme to investigate and implement the results into the life of rare disease patients in Europe and beyond.
The joint funding activity of Pillar 1 bringing 23 countries and the European Commission is key to speed up rare diseases research in Europe. The joint effort leveraging national funding resources in addition to the EC funding capacity is estimated at more than 60M € for 5 years. The variety of proposed funding schemes fostering transnational research, Networks and Rare Disease Challenges will be essential to enhance excellence and thus European leadership in the field of rare diseases.
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 5
- Recognized as major European player in the field of rare diseases, EJP RD was competitively selected as a Driver Project for the Global Alliance for Genomic & Health (GA4GH), which is the forefront international standards creation organisation for the genotype-phenotype data domain. Since one year, EJP RD is not only contributing to the establishment of global standards for responsible genomic data sharing, but also is driving new developments in the field that stem from the joint actions and enhanced capacity of its multiple stakeholders working together.
- The inclusion of representatives of IMI, EUCOPE and EFPIA in the EJP RD Policy Board enhanced the interest and support from industry to EJP RD actions. More specifically, it was agreed that the outcomes of the EJP RD Rare Diseases Challenges schemes will serve to better align the support among different stakeholders and target public-private collaborations exploiting the potential of EU academia, SMEs and industry.
- Recognized as major European player in the field of rare diseases, EJP RD started the collaboration with the Critical Path Institute (USA), notably with its RDCA-DAP – The Rare Disease Cures Accelerator-Data and Analytics Platform, which is an FDA-funded initiative that provides a centralized and standardized infrastructure to support and accelerate rare disease characterization, with the goal of accelerating therapy development across rare diseases. The expertise of EJP RD in data modelling and standardization led to a joint proof-of-concept testing the query of data provided by both parties through EJP RD metadata models, ontologies and s. This is paving the interoperability between EJP RD and RDCA-DAP resources.
- In year 2 EJP RD also initiated direct collaboration with European initiatives like the 1+Million Genomes project and the European Health Data Space, ensuring necessary alignments and recognition of rare diseases needs. Moreover, the integration of the European Reference Networks in EJP RD activities, is a unique configuration that reinforces the European leading role in RD research.
40% of participants/trainees of the EJP RD online education courses (MOOCs) are from outside of the EU demonstrating the added value of the EJP RD activities going beyond the EU borders.