EJP RD: Looking back on 5 years of developing the rare disease research ecosystem
As the European Joint Programme on Rare Diseases (EJP RD) draws to a close, it has published an article in Rare Disease and Orphan Drugs Journal discussing its work over the past five years and the path forward for the European rare disease research ecosystem.
Overview of EJP RD's activities and future directions (Mimouni et al, 2024)
EJP RD represents a coordinated transnational effort to improve the European rare disease research infrastructure. Launched in 2019 and financed by the EU’s Horizon 2020 funding programme, its consortium consists of over 130 institutions from 35 countries, including representatives from academia, government, European Reference Networks (ERNs), patient organisations, and more. Ultimately, EJP RD’s goal has been to create a streamlined process from basic research to clinical application which serves to accelerate the translation of research findings into healthcare improvements.
In service of this goal, EJP RD has conducted activities in three key areas: research funding; access to data and services; and training and empowerment. Through a series of Joint Transnational Calls (JTCs), the programme provided funding for Patient Advocacy Organisations (PAOs), networking events, and projects across a variety of medical domains and stages of the research pipeline. Additionally, the Rare Diseases Research Challenges Call was launched in 2020 as a novel initiative which included industry as participants and co-funders. Altogether, these schemes fostered a systematic exchange of information, centred the role of patient engagement in research, and built a transnational research funding programme specific to rare diseases.
In order to improve the accessibility of rare disease data for the research community, EJP RD created the Rare Diseases Virtual Platform (VP), whose public portal officially launched in 2023. The VP is a network of Findable, Accessible, Interoperable, and Reusable (FAIR) data resources meant to support research on rare diseases. This includes tools such as catalogues of resources, registries, biobanks, and knowledge bases. In parallel, EJP RD has developed resources on FAIRification in line with the platform’s adherence to such principles.
EJP RD has conducted a number of training and empowerment activities, which have had a significant impact on the rare disease landscape through their successful building of capacities and fostering of interdisciplinary cooperation. These have included research mobility fellowships; ERN research training workshops, and mentoring services. The programme also developed a Massive Open Online Course (MOOC), titled “Diagnosing Rare Diseases,” which has drawn thousands of participants from 150 countries since it was released in 2021.
While the EJP RD comes to an end later this year, the rare disease research landscape will continue to develop under the purview of its successor, the European Rare Diseases Research Alliance (ERDERA). ERDERA will continue to provide essential services such as data processing, regulatory compliance, and training support, while introducing a closer focus on clinical research. Building on the achievements of EJP RD, ERDERA aims to form a European Federated Rare Disease Research organisation, which could fund rare disease research on a long-term, sustainable basis. At the heart of all of these endeavours is the importance of accelerating access to diagnosis and treatment for people living with a rare disease, in close collaboration with the patients themselves.
