The challenges in rare disease research and the European Joint Programme on Rare Diseases

An image to illustrate rare disease research
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SciTech Europa speaks with EJP RD co-ordinator Dr Daria Julkowska about the challenges in rare disease research and the role of the new Horizon 2020 research initiative.

The European Joint Programme on Rare Diseases

In the EU alone, it is estimated that 30 million people are affected by rare diseases. On 1 January 2019, the EU’s Horizon 2020 launched a new research and innovation initiative, the European Joint Programme on Rare Diseases (EJP RD), with the aim to ensure that new treatments and diagnostic tools are available to those who need them the most.

The initiative is organised with overarching co-ordination and transversal activities coupled to four major pillars: research funding, co-ordinated access to data and resources, capacity building, and the accelerated translation of research projects and improvement of the outcomes of clinical studies. The two main objectives of EJP RD are to improve the integration, efficacy, production, and social impact of research on rare diseases, and secondly to implement an efficient model of financial support for all types of rare diseases research.

Assistant director of the Thematic Institute of Genetics, Genomics and Bioinformatics at INSERM, Dr Daria Julkowska, is also the co-ordinator of EJP RD. SciTech Europa Quarterly spoke with her to learn more about the current and upcoming challenges in rare disease research and the future of EJP RD.

What would you say are the biggest challenges in rare disease research today and how will the EJP RD help?

In rare disease research (RDR), one of the biggest challenge stems from the fact that there are around 7,000 rare diseases and, in terms of research, not all of them are equally covered. The quantity of research related to a specific rare disease is still to be developed; this is extremely important. The research should also follow the collaborative strategies to leave no one behind, and the EJP RD can contribute to it by providing, for example, dedicated financial support for research and networking.

How would you like to see challenges that are outside of the research sphere come to be addressed?

Access to therapies and suitable healthcare is a very important issue. This is very challenging as it remains as national competence and cannot be tackled easily at European level. However, some important efforts are being made. For example, the ‘European Network on Health and Technology Assessment’ (EUnetHTA) programme helps us to advance on these subjects.

Since the main focus of the EJP RD is research, it may contribute to the above-mentioned challenges at two levels. The first is by financing research in areas such as health technology assessment, health economics, or social sciences and humanities. We can therefore provide scientific evidence on aspects such as the burden of rare diseases or the need for new therapies and treatment.

At the second level we will establish a Policy Board, within which we expect representatives from the Ministries of Health and Research. We can then bring these important issues to their attention and jointly discuss the solutions or support that EJP RD can bring.

How do you hope to achieve your two major objectives?

Within the EJP RD, we are not starting from scratch. We are bringing quite mature instruments and infrastructures into our programme, which are now working together. These represent a total of more than 130 institutions from 35 countries, including 27 EU member states. Therefore, as a result of already having the necessary expertise and maturity of different entities, the objectives will be achieved, whilst being empowered by a strong will to work together for the benefit of patients.

How important is industry participation in rare disease solutions and how do you hope the Rare Disease Research (RDR) Challenges funding scheme will help here?

Industry is a big part of the funding for drug development. However, it must be framed in the right way. Together with DG Santé, the European Reference Networks (ERN) have created a Working Group that focuses on how they can ethically frame the collaboration between industry and the ERNs. This is something that will be important for us. Industry is very interested in the different activities of the EJP RD because we will have access to both resources and patients. In addition, we are also going to promote innovation, which is a natural pathway towards industry.

The RDR Challenges funding scheme is very innovative and is something that hasn’t been done in rare diseases before. It is industry that is setting up the challenges, and these must be meaningful for the rare diseases community. Although fostering small projects, we think that this is really going to prove the concept of how, together with industry, we can capture the potential of the academics and SMEs and, through that, accelerate the translation of research and solutions for rare diseases patients.

How are you working with the ERN and how important is this relationship?

Collaboration with the ERNs is crucial and is really at the heart of the EJP RD. All 24 ERNs are involved with in the programme as partners, and they are very much involved in all the activities and governance. We are working closely with the ERNs’ research Working Group to align the research and innovation strategy of the EJP with that of the ERNs.
The ERNs are also very much involved in Pillar Two, the virtual platform of data and resources. Therefore, the ERNs are going to guide when it comes to prioritising resources and the handling of research data in adherence to the FAIR data principles as defined within Horizon 2020 (Findable, Accessible, Interoperable and Reusable). The ERNs will also contribute to the effort of improvement and validation of methodologies for clinical trials in small populations.

How would you describe the main challenges that exist in Europe today in terms of translating high quality research into high impact interventions, and how will the EJP-RD help?

The quality of research is a key challenge because we need to ensure that the results are ready to be taken up by potential sponsors and industry. EJP RD has already put into place the necessary measures in the call for proposals which requires applicants to demonstrate how they will ensure the quality of their research and results (statistical validation, data sharing, use of animals, etc.).

Another challenge is ensuring that the projects being financed do not lose their innovation potential and are being accompanied in the correct way. This is the goal of WP19, where dedicated innovation managers will support the projects financed by the EJP RD for the entire duration of the project. They will also liaise with potential sponsors whenever possible. If this ‘proof of concept’ service works, then we will be able to scale it up and make it available to any interested parties.

Moving forwards, what are your short and long term hopes for the future of the JP?

I really hope that within a short timescale the EJP RD will become a reference source for rare disease research stakeholders and patients, who will use us to accelerate the solutions they are looking for or to find the necessary information or help. EJP RD has the potential to become such a reference point because we have the knowledge, capacity and competencies of multiple institutions: the funders, ERNs, European research infrastructures, universities, hospitals and, of course, other patients.

In the long run, one could imagine that the EJP RD will be transformed into the European Institute for Rare Diseases, which would be a sustainable, multinational structure fully integrated into the national and European research and healthcare strategies.

Daria Julkowska, PhD
EJP RD Co-ordinator
Tweet @DariaJulkowska

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