EURORDIS-Rare Diseases Europe Innovative research and knowledge development

Innovative research and knowledge development

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Rare disease research is vital for many reasons. For patients and families living with a rare disease – accounting for around 30 million Europeans or 1 in 17 people – research provides hope for getting an accurate diagnosis, finding effective treatments, and ultimately, a cure. Without research, individuals with rare diseases often face significant challenges, including misdiagnosis, delayed diagnosis, limited treatment options, and reduced access to care.

Rare disease research also provides important insights into the underlying mechanisms of diseases, which can have implications for understanding more common diseases as well. Additionally, rare disease research can contribute to scientific and technological advancements that have benefits beyond the rare disease community.

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Only 18% of people with rare diseases have participated in research to develop treatments and therapies.
(Rare2030 recommendations, p.95)

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Only 15% have participated in research on the quality of life.
(Rare2030 recommendations, p.119)

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Research on treatments and therapies remains a top priority for people living with a rare disease.
(Rare2030 recommendations, p.119)

Why research matters for rare diseases

Research is incredibly important for people with rare diseases and their families. These conditions often lack proper understanding, which makes it tough for doctors to diagnose and treat them accurately. But through research, we can expand our knowledge, find ways to diagnose these diseases earlier with specific markers and develop innovative treatments.

What’s more, research brings together communities of people affected by rare diseases, connecting patients, families, and researchers. This collaboration leads to patient registries, support networks, and even clinical trials, all of which help improve the lives of those living with rare diseases. And the best part is that research doesn’t just benefit rare disease patients; it has broader implications for all of medicine. It can teach us about essential biological processes and speed up the development of new drugs for many other health conditions.

On top of that, research in social sciences also plays a crucial role in advocating for better support and understanding of rare diseases. It helps shape healthcare policies and influences how funding is allocated, ensuring that these patients get the attention and care they deserve. For people with rare diseases, research offers hope and a sense of community. Knowing that dedicated efforts are being made to understand and treat their conditions brings comfort and empowerment to both patients and their families.

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“ Patients and researchers need collaborative efforts to translate basic science into clinical application, address unmet needs and find new ways of diagnosing, treating and curing rare diseases. The Open Academy was a precious opportunity to take proactive steps in research discussions for my disease. It gave me the tools to promote the application of advances in novel technologies, comprehensive data collection and innovative and secure ways of accessing and sharing data. ”

Michela Onali, Open Academy 2019 Alumna

EURORDIS objectives in the area of rare disease research

EURORDIS objectives related to rare disease research: EURORDIS aims to promote and facilitate research into rare diseases, with a focus on developing effective treatments, improving patient outcomes, and advancing scientific knowledge.

Promote cross-border collaboration on rare disease research and facilitate patient engagement

Contribute to the development of new and optimised diagnostic tools and treatments

A black and white photo of a child with a rare disease being held by her smiling mother.

A toddler with a rare disease, splashing some water with their hands.

450+ OPEN ACADEMY ALUMNI

(patients and researchers) of the EURORDIS School on Medicines Research and Development since 2008.

NEW CAPACITY BUILDING PROGRAMMES

in the areas of research since 2018 – the EURORDIS School on Scientific Innovation & Translational Research and the Leadership School

CONTRIBUTION TO THE CREATION

of the European Joint Programme on Rare Diseases and the International Rare Diseases Research Consortium (IRDiRC)

EURORDIS programmes and initiatives
EURORDIS projects and partnerships

EURORDIS programmes and initiatives

As part of its mission to improve the lives of people living with rare diseases, EURORDIS is actively involved in driving rare disease research. EURORDIS has several initiatives related to rare disease research, including:

The EURORDIS Open Academy programmes: EURORDIS offers several training and education programmes aimed at empowering patient advocates by learning about key aspects within the rare disease research environment and opportunities to get engaged in rare disease research. These programmes include the School on Medicines Research & Development, the School on Scientific Innovation & Translational Research, and online courses.
The Rare Barometer Programme: A EURORDIS initiative that aims to provide a snapshot of the realities faced by people living with rare diseases in Europe. The programme focuses on various aspects of rare disease, including diagnosis, treatment, and care.
The ePAG Transversal Working Group on Research and Registries, which aims to develop ePAG patient advocates’ understanding of relevant ERN clinical and basic research topics so they are informed when representing patients in their respective ERN.
The EURORDIS Roundtable of Companies: A platform for pharmaceutical and biotech companies to engage with the rare disease community and collaborate on research, development, and access to treatments.

EURORDIS projects and partnerships

EURORDIS works closely with a range of organisations to support rare disease research, including:

The International Rare Diseases Research Consortium (IRDiRC): A global consortium of research funders and organisations that aims to advance research into rare diseases. EURORDIS co-initiated, participates in, and represents European rare disease patients within the consortium.
The European Joint Programme on Rare Diseases: A European Union-funded initiative that aims to promote research into rare diseases and improve patient care. EURORDIS is a core member of the governance committee ensuring that patient needs and priorities are integrated within the different activities of this large programme.
The Community Engagement Task Force of the Solve-RD project: EURORDIS coordinates this multi-stakeholder group made up of patient representatives as well as experts active in initiatives dedicated to the undiagnosed and rare disease community.
The ‘Rare Disease Moonshot’ is a commitment and collaboration between seven organisations to break down the barriers to finding new treatments and cures for the world’s rarest and severe conditions which currently have no therapeutic options, and which often affect the youngest patients.
REMEDi4All is an EU-funded initiative with the overall aim to drive forward patient-centric drug repurposing in rare, ultra-rare disease and beyond.
Facilitate is an EU-funded initiative looking at ways to return data to patients participating in medical trials. The project aim to implement best practice for handling personal data protection regulations, and generate recommendations on which, when, and how data should be returned to study participant.
Screen4care offers a novel approach based on the following two central pillars: genetic newborn screening and digital technologies. The tools developed by Screen4Care aim to stimulate digital transformation within the healthcare system and improve diagnostics for rare diseases.
Conect4Children (c4c) brings together pharmaceutical companies, paediatric national networks as well as EU multinational sub-specialty networks, large patient advocacy groups, children’s hospitals and other public research organisations from across Europe. The project aims to facilitate the development of new drugs and other therapies for the entire paediatric population.
The BBMRI-ERIC (Biobanking and Biomolecular Resources Research Infrastructure – European Research Infrastructure Consortium) Stakeholder Forum: A forum that brings together stakeholders in biobanking and biomolecular research to discuss best practices and promote collaboration.
The Rare Diseases Global Open FAIR Implementation Network (RDs GO FAIR): A global initiative that aims to promote open, transparent, and FAIR (Findable, Accessible, Interoperable, and Reusable) data sharing in rare disease research.

EURORDIS also played a key role in the Rare 2030 Foresight Study, which aimed to develop a roadmap for rare disease policy in Europe over the next decade, by bringing together stakeholders from across the rare disease community to identify key priorities and strategies for addressing the challenges faced by rare disease patients. EURORDIS helped to coordinate the study and contributed to the development of the foresight report, which outlines a vision for the future of rare disease policy and sets out a series of recommendations for policymakers, healthcare providers, researchers, and patient advocates. The report has been widely disseminated and is intended to serve as a guide for shaping the future of rare disease research, diagnosis, and treatment in Europe.

With our members, EURORDIS has also promoted the need for rare disease research and budget as a priority at the national level, in particular through rare disease national plans. As a result, funding opportunities for research have increased in recent decades. The EU has supported research in the field of rare diseases extensively through its research and innovation framework programmes. Over €2.4 billion have been made available under the 7th Framework Programme (2007-2013) and Horizon 2020 (2014-2020) to more than 440 multinational research projects in the area of rare diseases.

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Call to action and policy recommendations

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OUR GOAL: People living with any rare disease benefit from faster development and safer use of health and well-being innovations in terms of curative or symptomatic treatments, improved organisation and management of care and holistic support.

1. Optimise the use of limited resources

European and national stakeholders should strategically invest in rare disease research, with an emphasis on incentivising data sharing and other research assets.

The upcoming European Rare Diseases Research Alliance (ERDERA) – also known as RD Partnership – should build the critical mass of expertise and knowledge required to speed up rare diseases research and development.

The optimisation of competitiveness and excellence in basic, clinical, translational, and social research must be ensured.

2. Increase incentives for research

Greater incentives for all stages of rare disease research must be ensured.

Competitiveness and excellence in basic, clinical, translational, and social rare disease research should be fostered.

3. Invest in pre-competitive infrastructures

Investment should be made in pre-competitive infrastructures to advance needs-led rare disease research.

The research capability of European Reference Networks (ERNs) for rare diseases must be fostered.

Bridges should be built with Clinical Research Networks (CRNs) to collaborate on rare disease research.

4. Enhance public-private research partnerships

Long-term multinational public-private research partnerships should be established.

International research collaboration should be promoted and sustained through IRDIRC and other international consortia.

How can you and your patient organisation make a difference in driving research?

People living with a rare disease can be directly involved in each step of the rare disease research process. For example, you could advocate for research when there is none by connecting with researchers working on similar diseases; help researchers design studies that reflect your needs; start or contribute to a registry so that researchers can find patients’ data; participate in surveys and provide your preferences and opinions; and participate in data collection and other research activities.

Patient representatives can participate in the EURORDIS Open Academy on Scientific Innovation and Translational Research or the EURORDIS Open Academy on Medicines Research and Development to become valued partners in rare disease research by developing their knowledge and capacities in this area. All EURORDIS Open Academy training courses are free and provided through a blend of e-learning courses and webinars.