The 8th RE(ACT) Congress and the 6th IRDiRC (International Rare Diseases Research Consortium) Conference concluded today, marking the end of a three-day summit where scientists, patient advocates, funders, and policymakers tackled the rare disease field’s most pressing challenges.
Throughout the event, participants shared new insights into early diagnosis, data sharing, advanced therapies, and the everyday hurdles faced by those living with rare conditions. Organised by the BLACKSWAN Foundation, IRDiRC, and the European Rare Diseases Research Alliance (ERDERA), the conference showcased how data-driven science, targeted treatments, and inclusive policymaking can pave the way for a brighter future for patients and families across Europe and beyond.
ERDERA was the notable newcomer. Launched in late 2024, the alliance’s mission includes accelerating diagnoses, increasing approved treatments, raising awareness, fostering collaborative research, and harmonising regulations. Its debut highlighted its potential to translate recommendations and emerging insights—such as those from the RE(ACT) Congress—into policies and tangible actions.
Accelerating Rare Disease Diagnosis and Data Sharing
A key theme was the potential of early diagnosis. Experts explained how newborn screening, in operation since the 1960s, is evolving through genomic techniques and machine learning—enabling the detection of complex conditions more swiftly and precisely.
They also called for clear, consistent data policies, emphasising how improved standards and shared platforms could drive faster breakthroughs in diagnosis and care.
Advanced therapies: From mRNA to Gene Editing
Another major focus was Advanced Therapy Medicinal Products (ATMPs). Researchers from across the globe outlined emerging possibilities, such as mRNA-based treatments and diagnostics, as well as gene-editing approaches.
Among the speakers was Nick Sireau, CEO and Chair of the AKU Society—a patient group supporting people with Alkaptonuria (AKU), a rare genetic disease that affects both his children. Sustained research collaboration and funding efforts helped this society develop and secure approval for an effective therapy. “I think mRNA is quite exciting for rare diseases because it’s what they call a platform technology,” he said. “In the case of monogenic diseases like Alkaptonuria, it basically codes for the missing or malfunctioning enzyme.”
Attendees also highlighted the growing potential of drug repurposing, noting that recent regulatory advances allow simpler clinical trial and approval processes—especially if a therapy is used in exactly the same form and route—thereby accelerating patient access.
Although therapies can significantly improve patients’ lives, attendees agreed that sustained support and well-coordinated regulation are essential to ensuring such innovations are both safe and accessible. As a global alliance, ERDERA plans to build similar partnerships between industry, patient organisations, policymakers, and academia, aiming to accelerate the journey from the lab to clinical use—especially for diseases with few or no existing treatment options.
Societal Impact and the Path Forward
Rare diseases affect not only individuals but also families and entire support networks. From mental health challenges to the need for flexible school policies, the event emphasised how patient stories and experiences should guide policy reforms.
Sofie Skoubo, a PhD student at Aarhus University in Denmark, Paralympian athlete and affected by neuromuscular diseases, advocated for a truly inclusive approach to education. “Having the opportunity to receive an education is the only thing that can give you a voice,” she said, highlighting the need to break down barriers that prevent individuals with rare diseases from fully participating in mainstream educational systems.
“We need champions,” said Gina Gioffi, a patient advocate and Chiesi representative from Chiesi Global Rare Diseases in the US. “People in public policy—decision-making positions—who are willing to champion rare diseases.”
This people-first perspective is also central to ERDERA’s mission as a patient-centred alliance focused on reducing social and economic inequalities linked to rare conditions.
Hybrid Funding Models in Focus
Over the course of the event, experts and early-career researchers alike urged swifter, more coordinated, and far-reaching efforts on the Congress’s action points. Some of these processes, speakers noted, call for innovative funding models. Irene Norstedt, Director for the People Directorate at DG Research and Innovation in the European Commission, highlighted the potential for hybrid models to fund research in health.
“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,” she said. “This approach means that industry resources and academic knowledge could be pooled together, opening up opportunities that would not be possible if academic researchers and companies worked in isolation. And patient organizations should also be included in that scheme, with their expectations and needs being taken into account.”
Closing Remarks
Organisers stressed that strong partnerships among government bodies, research institutions, patient advocacy groups, and private actors can greatly accelerate progress in diagnostics and therapies.
“Our strength lies in collaboration,” said Daria Julkowska, ERDERA’s Coordinator. “By uniting all stakeholders, ERDERA addresses the complex challenges of rare diseases on multiple fronts – from research and funding to practical patient support. Our goal is to turn promising advancements into real, meaningful benefits for those living with these conditions worldwide.”
Photographs by Matthieu Labey.
