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European Joint Programme on Rare Diseases

Periodic Reporting for period 2 - EJP RD (European Joint Programme on Rare Diseases)

Reporting period: 2020-01-01 to 2020-12-31

Rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients.

In the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centers in European Reference Networks, it appears crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling up, linking, and adapting them to the needs of end-users through implementation tests in real settings. Such a concerted effort is necessary to develop a sustainable ecosystem allowing a virtuous circle between RD care, research and medical innovation. To achieve this goal, the European Joint Programme on Rare Diseases (EJP RD) has two major objectives:
- To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how
- To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients.
Since the start of 2019, the EJP RD put in place a governance that allows the strategy of the EJP RD to be aligned with the national strategies of all the 35 countries involved, that of the European Commission and other major players such as industry. In addition, collaboration with the 24 European Reference Networks (ERNs) has been successfully strengthened and their commitment to the EJP RD confirmed.

The EJP RD completed two Joint Transnational Calls focusing on acceleration of diagnosis and/or exploration of disease progression and mechanisms of rare diseases and effective therapies for rare diseases. 40 multinational projects were funded for € 55 million, including € 8.7 million of EC contribution (https://www.ejprarediseases.org/our-actions-and-services/funding-opportunities/funded-projects/). Additional funding activities resulted in financing of: (1) 3 RD Research Challenges projects, focusing on public-private collaboration to develop therapeutic solutions for patients; (2) 11 networking events to support knowledge sharing in the rare disease community; (3) 3 demonstration projects to validate new innovative methodologies for RD clinical trials; (4) 15 training (short-term fellowships) for young clinicians as well as 7 transversal workshops for ERNs.

The building blocks of the Virtual Platform have been developed. The metadata model linking resources has been validated and extended with the latest standards, the prioritised RD resources have been made ready for linkage, the data model linking records inside the resources is being optimised to consider consent and reuse conditions, the pilot tools to query resources and discover data are in the testing phase before deployment. Additionally, 41 new biological pathways have been created and some are exploited through bioinformatic networks using identified multiomics data- to accelerate the diagnosis of rare diseases

For EJP RD training activities, 16 courses have been delivered and nearly 500 people have been trained: researchers, clinical staff and patients including from EU 13 countries.

The EJP RD support services for multinational clinical trials and the innovation management implemented respectively with the European infrastructures ECRIN and EATRIS, supported 3 requests for support for clinical trials, 4 research projects for translational support and search for sponsors and 15 applications of JTC2020 profited from mentoring service. The EJP RD Helpdesk has also been developed.
Through all its activities, the EJP RD will contribute to improvement of lives of rare diseases patients by providing tools and expertise necessary to improve the healthcare system’s capacity to take up research, optimised treatment options and diagnostic tools for these diseases. The year by year pathway to impact progress of the EJP RD can be observed here: https://www.ejprarediseases.org/ejp-rd-impact/
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