Despite significant investment consented by the European Commission on rare diseases research over the years, and the impressive achievements they produced, major challenges remain that can only be solved by building an integrated strategy for RD research in Europe that covers the whole patient-centred pathway, from bedside to bench and back to bedside. This is particularly needed in order to achieve the goals with which the International Rare Diseases Research Consortium (IRDiRC) has challenged the global community for the horizon 2027.
A European-wide rare diseases research strategy should therefore build on the past achievements in Europe and include and coordinate all the actors and initiatives of relevance for rare diseases. There is a need to overcome fragmentation and duplication of efforts, to make an efficient use of resources and data, to maximise the potential of already funded tools and infrastructures, and to facilitate the sharing of data, tools and experience in the European field and beyond.
The main goal of the recently accepted European Joint Co-fund Programme for Rare Diseases (EJP-RD) is to establish an urgently needed comprehensive strategy covering research, data, tools and clinics leading to optimisation and exploitation of results, higher and timely diagnostic rates, faster drug discovery at reduced costs, improved patients’ care, empowering all stakeholders as well as giving Europe a leading role in the field of RD in the coming years.
Indeed, EJP-RD aims to establish a sustainable and interoperable organisation for data generation re-use and sharing based on FAIR principles (Findable, Accessible, Interoperable, Re-usable) ; to structure the connection with European Reference Networks ; to fund high-quality, transformative research, enhancing uptake of research results for translation into healthcare and effectively transferring innovation for exploitation by SMEs and industry ; to promote adapted research methodologies for RD research ; to provide capacity building to all relevant stakeholders for a better research in the future ; and to ensure that patients are involved in every step of the research pathway.
Coordinated by the Inserm in France (by Daria Julkowska at the Institute (ITMO) of Genetics, Genomics and Bioinformatics, led by Catherine Nguyen), the EJP-RD is a multi-stakeholder consortium of 85 full partners and 71 third-linked parties with a pan-European coverage. Canada, Japan and Australia will also collaborate in the programme.
EJP-RD is an inclusive effort, building on existing resources, experiences and networks including eRare, Orphanet, RD-Connect, EURORDIS, ERNs, and research infrastructures like ELIXIR, BBMRI, EATRIS, ECRIN, INFRAFRONTIER, amongst many others.
EJP activities are organised around 4 main domains or Pillars:
- Collaborative research funding
- Innovative coordinated access to data and services
- Capacity building and empowerment
- Accelerating translation of high potential research and improving clinical research outcomes
They are overseen by a strong coordination organization and a structured governance, including a Policy Board, ensuring the prioritisation of activities and for the alignment with National-level research organisation. The creation of National Mirror Groups in each Member State is strongly encouraged to improve coordination efforts.
This new programme, that will start in January 2019 with a European support of 55 M Euros for 5 years, is a unique opportunity to transform and accelerate RD research in Europe. It will be the first initiative to gather such a huge number of diverse partners in a coordinated way, ensuring the necessary level of integration and a unique strategy to tackle RD challenges, with the final aim to improve RD patients’ lives by providing new treatments and means to diagnose all RD.
(source: Orphanet Aug31, 2018)