On May 15, 2025, at the heart of the Cordeliers campus in Paris, another edition of the Fondation Maladies Rares scientific symposium was held. A must-attend event for the rare disease community. The day brought together over 160 people - researchers, clinicians, patients, public players and partners - with a common goal: to advance research and innovation in the service of patients.
A human opening
Prof. Anna Jansen, pediatric neurologist at the University of Antwerp, opened the proceedings. Her keynote, devoted to neuropsychiatric disorders in tuberous sclerosis, illustrated the power of participatory research, actively involving families and patients. Through the TANDem project, she showed us thatlistening to those most affected transforms research and enriches therapeutic solutions.
Innovative therapeutic approaches
The morning was then marked by presentations exploring innovative therapeutic approaches.
- Dr. Nicolas Gilles (CEA, V4Cure) captivated the audience with the amazing story of a snake toxin (MQ232) that could become a promising solution for treating polycystic kidney disease.
- Dr Bertrand Beucher presented CAV-2 viral vectors, a technology developed for Dravet syndrome gene therapy, with very encouraging preclinical results.
- Laura Zarikian introduced another breakthrough: mRNA lipid nanocapsules capable of targeting the liver to treat pseudoxanthoma elasticum, a disease still without a cure.
Humanities and social sciences: the indispensable complementary perspective
Because rare diseases are not just a matter of genes or molecules, the following session opened the discussion to social, ethical and emotional issues.
- Marc Fourdrignier highlighted the invisible burden borne by mothers, who are often forced to give up their careers to support their children.
- Prof. Jean-Philippe Cobbaut raised major ethical issues around telemedicine in ALS, particularly in the most vulnerable phases of the disease.
- Dr Christelle Duprez shared a multi-method project on emotions in patients with hereditary angioedema, demonstrating that quality of life also depends on a better understanding of psychological experience.
These are just some of the issues that show that research in the social sciences and humanities is not a sideline, but a fundamental lever for improving people's lives.
Understanding for better diagnosis: exploring rare mechanisms
The afternoon session, "Exploring and diagnosing: towards a better understanding of rare diseases", took us to the heart of biological and diagnostic mechanisms.
- Prof. Francis Couturaud has explored hereditary thrombophilias through a targeted family approach.
- Dr Aurélie de Thonel presented her work on the deregulation of stress pathways in neurodevelopmental disorders.
- Dr Guy Lenaers demonstrated the power of metabolomics applied to a blinding mitochondrial pathology.
- Rasha Faraj has provided new data on ARX gene variants, revealing unprecedented correlations between genotype and phenotype.
This session served as a reminder that every advance in our understanding of rare mechanisms brings patients a little closer to diagnosis and, one day, treatment.
The morning closed with a tribute to Prof. Michel Goossens, Treasurer of the Foundation, who passed away in 2024. His scientific rigor, humanity and vision will remain a source of inspiration for many of us.
ERDERA: a European lever for research
In a context where structuring funding is essential, Dr Florence Guillot 's presentation of the ERDERA (European Rare Disease Research Alliance) program was particularly eagerly awaited.
This new European alliance, the successor to the EJP-RD, aims to make Europe a world leader in rare disease research, by federating the efforts of national agencies, the European Commission and the private sector.
ERDERA offers :
- Calls for joint transnational projects,
- Funding for clinical trials,
- Networking support systems.
A coherent strategy, based on the concrete needs of the research and patient communities, to accelerate discoveries.
AI, data and e-health: powerful tools to transform healthcare pathways
The afternoon round table offered a panorama of the uses ofartificial intelligence and e-health in the field of rare diseases: early detection, personalized follow-up, analysis of massive data. But the speakers also stressed the importance of ethics, inclusiveness and real benefit for patients. A pragmatic and ambitious vision of digital innovation.
Closing in style: posters, winning projects and concrete hopes
The afternoon followed with the presentation of research projects awarded by the Foundation and its partners. Innovative therapies, quality of life, pain, artificial intelligence, diagnostics: the themes were varied, but all carried by the same impetus of hope.
The symposium closed with a session devoted to exploring new biological mechanisms and improving diagnostic tools.
- Prof. Francis Couturaud presented his work on the identification of new forms of hereditary thrombophilia.
- Dr. Aurélie de Thonel spoke of the key role of cellular stress factors in neurodevelopmental disorders.
- Dr Guy Lenaers demonstrated the power of metabolomics in the analysis of mitochondrial pathologies.
- Rasha Faraj has deepened our understanding of the genotype/phenotype link in ARX gene mutations.
A dense and fascinating session, demonstrating that every advance in understanding opens the way to more precise diagnosis, and even to targeted therapeutic strategies.
A number of posters and exchanges extended the discussions during the breaks.
Many thanks to all those who make this possible
This symposium would not have been possible without the invaluable support of our partners, to whom we extend our warmest thanks for their loyalty and commitment(Alnylam Pharmaceuticals, argenx, Ipsen, Sanofi, Kyowa Kirin, UCB, sobi, novo nordisk, VERTEX andAFMTÉLÉTHON).
We would also like to express our sincere gratitude to all the speakers and moderators, for the quality of their contributions and the richness of the exchanges.
A huge thank you to our volunteers, whose energy, rigor and good humor enabled this day to take place in exemplary conditions.
We also salute the tremendous work of the Fondation Maladies Rares team, whose commitment and professionalism made this event such a success.
Finally, I'd like to thank all those present that day for their curiosity, enthusiasm and sharing. Your mobilization encourages us to continue, to innovate, to hope.