Specific impact 1: Improve lives of rare disease patients by providing new and optimised treatment options and diagnostic tools for these diseases

The contribution of the EJP RD to the improvement of lives of RD patients by providing new and optimised treatment options and diagnostic tools will be achieved as a sum of efforts provided within different pillars and transversal activities strengthened by the central coordination and close linkage with relevant policy stakeholders to translate these efforts at regional, national and EU levels.

New and optimised treatment options and diagnostic tools can only emerge from well-organized, coordinated science that includes basic, translational, clinical social and health economic research. These different types of research will be financed and closely monitored in Pillar 1 thereby accelerating development of diagnostic tools and treatments.

Pillar 2 aims at removing obstacles, for both humans and computers, to finding, accessing under welldefined conditions, analysing and reusing data across the many resources that are relevant for clinical and biological research on rare diseases. The power of Pillar 2 virtual platform will lie in enabling RD data and tool providers to make their data as usable as possible through FAIR principles. RD researchers and experts will be able to find and exploit most relevant data and tools more rapidly to perform advanced and reproducible analysis allowing better understanding of RD causes, mechanisms and determinants, which will improve ways to diagnose and to treat RD.

The successful delivery and implementation of Pillar 3 training courses will result in the systematic implication of patient representatives in the design of research, treatment strategies and developments, as well as care programming and actions at European, national and regional levels.

By creating an end-to-end pipeline of support and expertise for RD research, Pillar 4’s focus on translating excellent science into effective interventions for RD patients will maximise the patient impact of the EJP RD efforts. By ensuring access to expertise, facilities and funding, the complexities to translation will be ameliorated, while the efforts to develop, demonstrate and disseminate improved clinical study methodologies with a support desk available will substantially improve our ability to develop valuable interventions for small populations and enhance the involvement of ERNs in clinical studies.

Yearly updates on impact 1