We met Irene Norstedt, Director for the People Directorate at DG Research and Innovation in the European Commission, at the RE(ACT) Congress in Brussels, where she delivered a compelling presentation on diverse funding models targeting different research needs.
You’ve just wrapped up the 8th RE(ACT) Congress and 6th IRDiRC Conference in Brussels. Beyond the formalities, what stood out for you personally from this gathering?
These events always remind me of how dynamic the rare disease field truly is. It’s not just about sharing research findings; it’s about making personal connections, hearing real-life stories, and feeling the collective drive for change. What stood out was seeing researchers, clinicians, and patients openly challenge each other to do better, faster, and more inclusively. That constructive tension is exactly what keeps this community moving forward.
The Congress highlighted the role of artificial intelligence and drug repurposing in rare diseases. Can you share your perspective on how these innovations might change patient experiences in the coming years?
AI and drug repurposing aren’t just buzzwords; they’re already reshaping how we tackle rare diseases.
For example, AI technologies can rapidly analyse a patient’s genetic data to speed up and improve newborn screening & diagnoses—sometimes in a matter of weeks instead of years. This means fewer stressful “diagnostic odysseys” where families bounce between specialists. Here’s 2 examples of projects we are currently funding where AI serves the rare diseases community: Screen4Care, meant to reduce the path to rare disease diagnosis by using newborn genetic screening and digital technologies’, and GenoMed4All, targeting rare haematological diseases.
AI can also be useful in better patient stratification, and thus to deliver more personalised medicine.
Drug repurposing also brings hope, because we can examine existing, approved medicines for new purposes. By leveraging what we already know—such as a drug’s safety profile—we can speed up research and clinical trials. We are for example currently funding 2 promising research projects on drug repurposing: REPO4EU and Remedi4All. This approach has already borne fruit in certain oncology treatments, and we believe it can do the same for many rare diseases. In the end, these innovations aim to give patients quicker, more targeted care.
“By setting common goals and ensuring everyone has a voice, the EU fosters a spirit of trust.”
ERDERA involves a seven-year collaborative initiative. In practical terms, how does the EU facilitate and accelerate its objectives, and why is this partnership essential?
The EU provides more than just funding—it creates the conditions for genuine collaboration, the glue for national funders to join efforts, and also researchers, clinicians and patients. Without the EU’s structure, we’d risk falling into old habits of working separately, duplicating efforts, and missing crucial opportunities. By setting common goals and ensuring everyone has a voice, the EU fosters a spirit of trust.
ERDERA -and the European Joint Programme on Rare Diseases (EJPRD) before it- aligns perfectly with EU values: inclusivity, innovation, and unity. As first funder of ERDERA, the European Commission has made sure to put clinical research at the centre of ERDERA, for example by asking to embed into ERDERA the legacy of important diagnostic work done by a previous project, Solve-RD, implemented with several European Reference Networks (ERNs). Within ERDERA, we intend to roll-out this work to the 24 ERNs and also to countries so far under-represented in research projects.
By bringing academic researchers, industry, patient groups, and policymakers to the table, we ensure breakthroughs benefit as many people as possible, rather than staying locked in silos.
ERDERA aims to integrate policies and services across Europe. Given that rare disease patients are scattered and often isolated, why is this integration only happening now at this scale?
Health systems usually work in isolation, and rare diseases were thus traditionally managed in isolation. But at EU level, we support collaboration because no country alone, and no stakeholder alone, has the answer for such huge unmet needs in rare disease research.
For example, we launched our first network of funding schemes (E-Rare) back in 2006, with 10 partners from 8 countries jointly funding research team across borders. Always more countries joined these efforts, successfully in E-Rare-2, E-Rare-2 and EJPRD. ERDERA, with 180 partners from 36 countries, has therefore benefitted from an ecosystem built over the years.
And on healthcare side, with the adoption of the Cross-border healthcare Directive and the establishment of the 24 European Reference Networks back in 2017, we had the unique chance to make research and care for rare diseases closer to each other.
We are also glad to see that ERDERA is hosting the Scientific Secretariat of our International Rare Diseases Research Consortium (IRDiRC), set up by us and NIH Institutes of Health back in 2011, where patients organisations and companies joined these efforts.
Now, technology and policy have also caught up. We can build databases across borders, design better networks of expertise, and share solutions in real-time. ERDERA is about bringing that collective European vision to the forefront, addressing complex challenges in a unified way.
“Industry resources and academic knowledge could be pooled together, opening up for opportunities that would not be possible if academic researchers and companies would have worked in isolation.”
Why are innovative funding models so crucial in rare disease research? Could you share a specific example where a hybrid funding approach made a real difference?
In rare disease research, traditional funding approaches often fall short because the patient numbers are small, and the scientific challenges are big. We therefore need to mix different funding models for different needs: public funding from different levels (EU with national funding, like in ERDERA or EJPRD), public-private partnerships like with our Joint Undertaking Innovative Health Initiative IHI, but also contributions from charities, foundations, and companies —not only in terms of funding, but also in terms of expertise and skills.
One notable example is “Conect4Children”, a project funded under our Innovative Initiative (IMI), now IHI. Under this project, the EU and pharmaceutical companies have jointly supported the development of clinical trials for children, many of them with rare diseases.
This approach meant that industry resources and academic knowledge could be pooled together, opening up for opportunities that would not be possible if academic researchers and companies would have worked in isolation.
ERDERA relies heavily on sharing sensitive health data across Europe. How do you realistically balance the need for openness with protecting patient privacy?
It’s always a tightrope walk, but transparency and clear governance make it possible. In Europe, we benefit from robust data protection regulations, such as the General Data Protection Regulation (GDPR). Under ERDERA, work on data is critical and we know from people living with a rare disease that they are eager to share their data for care AND research purposes. The adoption of the European Health Data Space Regulation will certainly help such patients in the future!
“We need to ensure that women have visible seats at every decision-making table—from grant review panels to executive boards—so that future generations of scientists see representation in action.”
Tackling gender inequality in science remains challenging. What do you think is the core issue here, and what concrete steps should be taken immediately?
At the core, gender inequality is still about deeply embedded cultural biases, so it is important to recognise that acknowledging women’s contribution to science is just the starting point—lasting change comes from real policy action and systemic reform.
Immediate steps include active mentorship programs, mandatory equity in research leadership positions, and flexible work environments that genuinely support everyone. We also need to ensure that women have visible seats at every decision-making table—from grant review panels to executive boards—so that future generations of scientists see representation in action.
When institutions invest in equitable parental leave and deliberately dismantle stereotypes around women’s leadership, we see a tangible shift in who rises through the ranks. By making these measures the norm rather than the exception, we send a strong, categorical message: women belong in every facet of science, and their voices are indispensable to progress.
This is also an issue among the rare disease community. We know that most primary carers are women, mostly mothers, with their work and knowledge often being unrecognised. How can this issue be addressed more systemically?
Addressing the gendered burden of care in the rare disease community requires systemic change that acknowledges and values the crucial role of primary carers – who indeed are overwhelmingly women – not just as caregivers but as key contributors to medical knowledge and patient advocacy.
One of the first steps is to identify and include caregivers’ knowledge in research, policy, and healthcare decisions. Their experience provides valuable insights that can help make research and treatment strategies more applicable and effective.
At a policy level, we must ensure that caregiving work does not limit women’s career options. This includes measures such as greater flexibility in the workplace for those combining caregiving and paid work. Gender-sensitive research funding for research on the impact of rare diseases must also prioritise carers, so that their contributions and needs are both reflected in health and social policies.
Finally, challenging gender stereotypes around caregiving is essential. As we encourage and normalise equal caregiving roles, we move towards a framework in which care work is recognised as part of the social good, not hidden work disproportionately borne by women.
“By setting high standards in areas like patient engagement, inclusivity, Europe can guide other regions in adopting best practices. It’s not just an opportunity; it’s a duty”.
Given today’s pressing global challenges, how can the EU seize this moment to assert stronger leadership in rare disease research globally?
Today’s global uncertainty makes the EU’s role even more crucial. Research, especially in the rare disease space, thrives on stability, collaboration, and long-term thinking. That’s where the EU can stand firm—by providing consistent funding, creating clear guidelines, and championing international cooperation.
By setting high standards in areas like patient engagement, inclusivity, Europe can guide other regions in adopting best practices. It’s not just an opportunity; it’s a duty. If we want to address rare diseases effectively worldwide, the EU must continue to show what collaborative research, with solid consortia of research teams working across borders, along clear concerted and ethical principles, can achieve.
Irene Norstedt photographs are by Matthieu Labey/BLACKSWAN Foundation (CC BY-NC-SA 4.0)
EU Flag photograph – CC0
