Specific impact 3: Increase the EU’s capacity to innovate in the field of rare diseases

The EJP RD programme combines massive amount of expertise and capacity not only through its direct partners but also through hundreds of rare disease researchers that will be financed in the joint transnational projects. This increases the opportunities for innovation and for translation into improved diagnostic tools and new or optimized treatments. In addition, the discoveries brought by RD field may serve and be expanded to other medical domains, as the underlying disease mechanisms may also be useful for improved diagnostic and therapeutic solutions for more common diseases.

All funding activities of Pillar 1 foster the increase of research and knowledge capacity for rare diseases in Europe. The dedicated Rare Disease Challenge funding scheme will specifically aim at removing general obstacles for innovation in the field of therapeutic research in rare diseases by bringing together public and private stakeholders (academia, SMEs, industry and funders). In addition, the support provided from Pillar 4 to detect exploitation potential in funded projects of Pillar 1 and subsequent accompanying of these projects through translation to clinic steps will contribute to the increase of innovation and competitiveness potential of EU.

Pillar 2 will support the increase of EU’s capacity to innovate at different levels: (i) it will maximize the potential of already existing, EU funded facilities and tools, both RD-specific and broader ones (RD-Connect, Orphanet, HPO, ELIXIR, BBMRI, EATRIS, ECRIN, INFRAFRONTIER, etc.) by supporting them further, scaling them up, linking them together and fully tuning them to the needs of end-users; (ii) it will set mechanisms to continuous integration of new data elements, standards and tools so as to provide European research with a unique ecosystem that will efficiently translate research into better care and medical innovation; (iii) by working hand in hand with the European Reference Networks it will bring a unique opportunity to efficiently link healthcare and research opening the road to diagnostics innovation; (iv) furthermore, as omics becomes more prevalent in clinical practice Pillar 2 will develop novel tools and pathways for comprehensive interpretation of data and setting of standards thereby accelerating means to tackle undiagnosed diseases.

Providing state-of-the-art education and bringing together different type of stakeholders will enhance the innovation potential of the RD community. In addition, empowering patients and promoting patients’ centred approaches brings attention back to their needs, helps in focusing on relevant priorities and thereby accelerates the process of innovation. In addition, Pillar 3 itself will be source of innovation in training and education field by creating the first EU e-learning academic education programme on RD.

EJP RD is structured specifically to improve innovation, and Pillar 4 creates the bridge from basic research to the clinic and back, in the bench-to-bedside-and-back approach. By both supporting the best projects to get to the patient more effectively, and working on some longstanding bottlenecks, such as methodological challenges in design and analysis of clinical studies of small populations, and access to proof-of-concept funding for preclinical projects, this pillar will allow immediate systemic improvement to Europe’s ability to innovate in RD and accelerate the reach for therapies. Moreover, the structural access to clinical and methodological expertise, as well as industrial and translational research expertise, along with an extensive self-help toolbox, will ensure that any innovation-related question can be quickly and effectively answered, and any innovation study be robustly supported in design and execution phases.

Yearly updates on impact 3