After leaving Amsterdam before the sun rose, and fresh from speaking the day before at Amsterdam’s World EPA Congress 2025 (see Hanchard, 2025), I arrived in Brussels just in time for registration at (Re)Act Congress 2025. As the combined hotel and conference venue, the Pullman was conveniently built into Brussels Midi Eurostar station – making the walk very short work! As bi-annual event, the Re(Act) Congress is jointly sponsored by the Blackswan Foundation, International Rare Diseases Research Consortium (IRDiRC) and European Rare Diseases Research Alliance (ERDERA). Jin Ding and I had attended the same congress in Berlin two years ago (Hanchard, 2023), enjoying its mix of clinical researchers, regulators, patient organisations, and policy makers. This time, the smaller size of the event meant all talks remained in one track and a single room, with an ample separate space for posters and breakout areas – Jin Ding presenting her poster in the latter. With few consultancies, and almost no products or services being sold, general discussion felt solution-focused and directed. An evening social event at the Faculty on day 2 providing some light relief.
On day one, talks covered diagnoses and data. On day two, they turned to novel therapies and advances within the ATMP field (advanced therapy medicinal products), i.e. gene therapies - and on the impact of accessing rare disease treatments for patients everyday lives. On the third and final day, talks turned to pricing, funding models, and the increased uptake of repurposing – taking medicines approved for one condition and then using them for a rare disease instead in place of any specific drug being developed. Across the talks, the recently enacted EU AI Act 2025 and upcoming EU Biotech Act 2025 saw occasional mention, but always as a brief side note. Chris Hendriksz’s (Chief Community Impact Officer at A Rare Cause) provided an insightful history of the shift form newborn genetic screening (as material process of sample gathering to its role with machine learning models as abstracted data. Here, commentors from the audience were keen to note that ERDERA is working hard redress poor choices of endpoints in its mission to offer better diagnoses for undiagnosed individuals with rare diseases. Meanwhile, Marieke Bak (Assistant Professor, Amsterdam UMC / Senior Research Associate at Technical University of Munich) urged more responsible data use in rare disease research, proposing a Ethical, Legal, and Social (ELSI) framework for doing so. On innovations in the field, Nick Sireau (CEO and Chair of Trustees at the AKU Society / Co-founder of both Beacon and Sireau Labs) evidenced the value of advances in messenger ribonucleic acid (mRNA) rare genetic diseases like alkaptonuria (AKU), also known as ‘black bone disease’. Later, Gérald Perret (Programme Director at Genethon) discussed the company’s work to develop an AAV8 vector-delivered microdystrophin gene therapy for Duchenne muscular dystrophy (see also Laugel et al., 2024). Here, highlighting a few talks hardly does justice the sheer quality and depth of presentations; blog posts offer too little space. One standout talk for us though, came from two-time Paralympian Danish national wheelchair rugby player and PhD candidate at Aarhus University, Sofie Skouba. Verging at times close to her work with iHuman’s own Dan Goodley (see Fiis Christensen et al., 2025), Skouba discussed a role for telepresence robotics for children with chronic conditions as a means of alleviating educational exclusion. Skouba covered regulatory hurdles in Nordic countries, and the differing interpretations of mandatory education versus and mandatory schooling – the argument being that educational support, reform, and rethinking are needed. As the day closed, attendees rushed off to prepare for the social event, just a short walk from the venue through various Moroccan and Congolese eateries, greengrocers, and cobbled streets.
The final day kicked off at 9.00am sharp with Valentine Nivedita as first speaker (VP Global Product Innovation at Pharmanovia), covering the company's approach to repurposing and ways of working around regulatory barriers to approval. Next came a talk from Irene Norstedt (Director of the People Directorate at the European Commission) on recent moves to ensure open, equitable, and fairer access to treatment across Europe. Later talks were equally high in calibre, with standout sessions for our project including one by Philip Gribbon (Head of Discovery Research at Fraunhofer ITMP), whose talk included a tentative call for industry to make its non-profitable failed trail results open to others for repurposing. A healthy round of questions saw people like Donald Lo (Director of Preclinical Innovation at NCATS) note that the move could support clinical trials research when it is stuck - stoking innovation. Yet inevitably, talk moved back to data as a core concern for the industry. Comments and suggestions ranged from an argument that IP should be withheld until as late as possible, through to concerns being expressed over the lack of investment for data science infrastructure across Europe, and a need for diligence in data processes for machine learning. More concretely too, on how schemes such as Remidi4All might move towards FAIR data compliance to ensure openness and interoperability ready for machine learning (the latter appearing as a proxy for article intelligence). Elsewhere, commentators like Linda McNamara (WEP Clinical) were quick to highlight that uncritically accepting real-work evidence (RWE) on the bases of real-world data (RWD) is where bias creeps in. Overall, the congress again saw leading experts leave with more questions than answers, and more problems to solve than solutions, all of which supports incremental progress. While our immersion in conferences draws to a close, I have no doubt that the (Re)Act congress 2027 will see repurposing and AI remain key topics, but by then with many successful case examples to demonstrate.
References
Hanchard, M. (2023) ‘Working towards standardisation and collaboration across rare disease research, iHuman. [Blog}. https://www.sheffield.ac.uk/ihuman/blog/irdirc2023
Hanchard, M., (2025) 'World EPA Congress 2025: The landing of AI and growing appetite for transferable exclusivity', iHuman. [Blog]. https://www.sheffield.ac.uk/ihuman/news/world-epa-congress-2025-landing-ai-and-growing-appetite-transferable-exclusivity
Laugel, V., De Lucia, S., Davion, J., Daniele, D., Cao, F., Sanz, M., Buscara, L., Blaie, S., Thibaut, L., Sagot, M., Riviere, A., Creoff, E., Lelait, M., Valent, A., Perret, G., Braun, A. and Muntoni, F. (2024) ‘410P GNT0004, Genethon's AAV8 vector-delivered microdystrophin gene therapy of Duchenne muscular dystrophy, first data of the phase I/II part of the GNT-016-MDYF all-in-one clinical trial in ambulant boys’, Neuromuscular Disorders, 43(1). doi: 10.1016/j.nmd.2024.07.290.
Friis Christensen, J., Falster, ES., Nino Carreras, B. and Skoubo, S. (2025) 'On the all-inclusive society, or how to leave no one behind – A conversation with Dan Goodley, Yanki Lee, Jos Boys, and Sarah Glerup', Kvinder, Køn & Forskning, 37(2), pp. 12-20. doi: doi: 10.7146/kkf.v37i2.139658.
