Page 23 - Read Online

Page 4 of 10 Mimouni et al. Rare Dis Orphan Drugs J 2024;3:17 https://dx.doi.org/10.20517/rdodj.2024.06

effectiveness in fostering broader involvement. EJP RD has also made significant efforts to include
underrepresented countries through widening activities in JTCs: 19 teams from 6 countries were included in
funded consortia in the JTC2019 to 2023 through the widening process. Building on this achievement, the
next phase of the programme, as described below, plan to empower under-represented countries and
measure their influence on research activities and results uptake.

Additionally, EJP RD launched a novel funding initiative involving industry participation and co-funding.
The Rare Diseases Research Challenges Call, implemented in 2020, funded three projects in response to
[16]
challenges defined by the involved industrial partners . These 30-month projects, started in late 2021, are
aiming to deliver tangible solutions to these challenges, with a swift translation of results to patient benefit.
The innovation aspects were also addressed within 5 EJP RD-funded projects fostering demonstration and
innovation in methodologies for clinical trials [17,18] [Supplementary Table 1].

The projects stemming from the 15 joint transnational calls of the EJP RD and E-Rare programme
comprehensively cover various medical domains and stages of the research pipeline. Notably, about 35% of
the funded projects focus on neurological diseases, followed by 12% on haematology and immunology, and
7% on metabolic diseases [Figure 1]. The distribution of the funded project per disease area aligns with the
distribution of initially submitted proposals, and is not caused by any specific bias in the selection of
particular domains. In addition, to keep the balance and avoid over-financing of certain domains, the EJP
RD funders systematically benchmark topics of other existing initiatives and, if needed, exclude topics or
domains already covered in other similar programmes (i.e., JPND, ERA4Health, etc.). The funded projects
range from basic research in molecular and pathophysiological studies to clinical studies, diagnostic studies,
preclinical and validation studies, natural history studies, and social sciences and humanities [Figure 2].
Notably, for the latter two areas, dedicated JTCs were launched in 2021 and 2023. Importantly, many
projects encompass multiple approaches. Both E-Rare programmes and EJP RD mostly focus on
fundamental, preclinical, and translational research. The results of the clinically oriented projects are yet to
come.

Rare diseases virtual platform
In 2023, EJP RD officially opened a public portal for accessing the Rare Diseases Virtual Platform (VP) .
[20]
This platform is a growing network of Findable, Accessible, Interoperable, and Reusable (FAIR) resources
developed or enhanced by EJP RD to support the rare disease research community. It features a variety of
sources, including resource catalogues, registries, biobanks, knowledge bases, animal models and cell line
libraries, omics deposition and analysis platforms, and tools adhering to agreed standards . The portal
[21]
enables real-time, one-stop searching of the VP network’s resources, facilitating their discovery and
preventing the need to navigate multiple platforms.

Data stay at its source but can be remotely queried from various network points. This setup allows for
federated discovery, querying, and analysis while maintaining patient confidentiality and adhering to each
resource’s access conditions. Certain resources, like patient registries, require authentication for detailed
data queries, whereas others, like catalogues and knowledge bases, are freely accessible. Logging in enables
the application of specific patient data search filters, providing aggregated results.

The VP’s adherence to FAIR principles ensures its viability, enhancing data discovery, indexing, integration,
and reuse under clear conditions. FAIR implementation also allows for secure, automated data handling
with minimal human involvement. To facilitate this, EJP RD has developed services, guidelines, tools, and
training for FAIRification .
[22]