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Page 2 of 10 Mimouni et al. Rare Dis Orphan Drugs J 2024;3:17 https://dx.doi.org/10.20517/rdodj.2024.06

building elements of the Rare Diseases (RD) ecosystem. New avenues for the RD community were opened
thanks to the emergence of important initiatives, instruments, and organisations, including the creation of
the resource platform Orphanet and the patients’ organisation EURORDIS (1997), the establishment of the
International Rare Diseases Research Consortium (IRDiRC) (2011), the implementation of the European
Reference Networks (ERNs) (2017), and the launch of the European Platform for Rare Disease Registration
(2018). At the national level, many European countries adopted national plans (NP) and/or national
strategies (NS) to tackle rare diseases, including some policies for research. At the EU level, these
endeavours were supported by EU co-funding through the so-called ERA-Net scheme (networking of
national research funding agencies): E-Rare-1, E-Rare-2, and E-Rare-3. However, the integration of these
foundational building blocks into a cohesive structure remained necessary. The launch of the European
Joint Programme on Rare Diseases (EJP RD) was a major milestone and a prime example of Member States
working together in a coordinated manner beyond joint funding activities. EJP RD (2019-2024) aims to
establish an effective research ecosystem for rare diseases (RD), promoting progress and innovation to
benefit patients . This initiative unites over 130 institutions from 35 countries, exemplifying cooperative
[1]
efforts between Member States and a range of (above-mentioned) stakeholders including research funders,
ministries, research institutes, universities, European Reference Networks (ERNs), EU research
infrastructures, foundations, and patient organizations. The overall budget of EJP RD - 101 million euros -
is supported by the EU R&I funding programme Horizon 2020 (55 million euros) and the participating
entities.

EJP RD focuses on creating a streamlined process from basic research to clinical application (“bench to
bedside”) to accelerate the translation of research findings into healthcare improvements. The programme
builds upon 15 years of work in the RD field, integrating and expanding existing infrastructures, training
programmes, funding mechanisms, and tools, while also developing new, essential components. This
approach has resulted in a harmonized, centralised RD research ecosystem, incorporating cross-sectoral and
integrative strategies to tackle health challenges.

The programme's structure encompasses Collaborative Research Funding, Coordinated Access to Data,
Tools, and Services through a Virtual Platform, Capacity Building through Training and Empowerment,
Accelerated Translation of Research Results and Clinical Studies, and Centralised Coordination and
Transversal Activities. These latter activities also cover strategy, sustainability, ethics, regulatory issues, and
communication, all integral to the programme's success. The EJP RD research support cycle is presented in
Supplementary Figure 1.

EJP RD AS PART OF THE OVERALL RD LANDSCAPE
Collaboration is crucial in bolstering the EU’s leadership in the RD domain. At international scale, the EJP
RD serves as a pivotal tool in fostering stakeholder cooperation within the RD field, promoting enhanced
research, policy alignment, as well as the sharing of infrastructure and knowledge across various scales for
the benefit of patients.

The international dimension of EJP RD is also reflected by its alignment with the International Rare
[2,3]
Diseases Research Consortium's (IRDiRC) objectives . EJP RD hosts and supports the Scientific
Secretariat of IRDiRC. This cooperation is underscored by a strong, mutually inclusive link in research and
policy actions. The chair of IRDiRC brings a global dimension as a member of EJP RD’s Policy Board .
[4]
Independent IRDiRC experts contribute to discussions on topics related to EJP RD’s calls for projects. On
the other hand, since 2019, 42 experts from EJP RD beneficiary institutions contributed to IRDiRC Task
Forces, with 24 participating in its scientific committees . Furthermore, collaborative initiatives include
[5]