Yesterday, the Rare Diseases Foundation brought together researchers, clinicians, patient organizations, patients, and partners at the Paris Faculty of Pharmacy for its annual scientific symposium, which this year focused on the theme“Treatment of rare diseases: from research to patients.” Throughout the day, this year’s event highlighted the path from understanding diseases to developing therapeutic solutions, and ultimately to their tangible impact on patients’ lives.
The morning began with the opening of the symposium byProfessor Daniel SCHERMAN, followed by a keynote address byProfessor Alexis BRICE(Institut du Cerveau – Paris), who offered a fascinating perspective on rare monogenic forms of Parkinson’s disease. His presentation set the tone for the day: starting with biological mechanisms to better understand diseases and open up new therapeutic avenues.
This theme continued with the session“The Right Models for the Right Treatments,” which highlighted the essential role of research models in the development of future therapies.Dr. Johann BÖHM(IGBMC – Strasbourg)presented his work on tubular aggregate myopathy and Stormorken syndrome, whileDr. Betty GARDIE (Institut du Thorax – Nantes)discussed the modeling of hereditary diseases linked to the hypoxia pathway,Dr. Pauline NAUROY(Fondation Maladies Rares)highlighted the Foundation’s contribution to the creation of new models for the study of rare diseases, andDr. Frédéric FIORE (CIPHE – Marseille)highlighted the value of resources dedicated to preclinical models.
The sessiontitled “From Model to Development: Navigating Innovation”then expanded on this discussion, featuring a presentation byProfessor Frédéric SAUDOU(Institute of Neurosciences – Grenoble)on Huntington’s disease. This segment highlighted how research must also be approached from the perspective of development, validation, and translation into practical applications, so that innovation can truly benefit patients.
Following a sponsored session led byDr. Véronique Marie André(UCB), followed by the poster session and a tour of the exhibition booths, the day continued with the sessiontitled “Innovative Strategies for Innovative Treatments.”Dr. Hélène Roumes(CRMSB – Bordeaux),Dr. Robin Reynaud Dulaurier(Institute of Neurosciences – Grenoble), andDr. Sylvia Colliec-Jouault (Ifremer – Nantes)presented complementary approaches ranging from brain metabolism to gene therapy, including new strategies for mucopolysaccharidosis IIIA. This session highlighted the wealth of avenues currently being explored to develop the treatments of tomorrow.
The afternoon also featured the presentation ofthe Alnylam Awardand theargenx Award, recognizing the quality and originality of the projects presented byDr. Annarita MiccioandDr. Elizabeth Cruz Gomez. The roundtablediscussion “Patient Contribution: A Driver of Innovation”then gave full attention to lived experience, emphasizing that patients are not only at the center of research but are also essential actors, capable of shedding light on the priorities, needs, and real-world applications of innovations.
The day concluded with the session“Therapeutic Success: Social and Human Challenges,” which provided a complementary perspective that is essential for considering the post-treatment period.Dr. Damien Oudin Doglioniwas honored at theNovo Nordisk Award ceremony, whileProf. Céline Lefève,Dr. Milena Maglio,Dr. Laura Silvestri, andDr. Camille Raccademonstrated that therapeutic success is not limited to medical efficacy: it also transforms life trajectories, as well as family, social, and professional dynamics, and requires tailored, long-term support.
The conference concluded with the presentationof the poster award, sponsored byRDODJ magazine, which awardedtwo posters €200 each. We would like to extend our heartfelt thanks toRDODJmagazine for its support, as well as to all the poster presenters for the quality of their work.
The Rare Diseases Foundation would like to extend its heartfelt thanks to all the speakers, poster presenters, and participants, as well as its partnersAlnylam, argenx, Kyowa Kirin, Novo Nordisk, and Sobi.
Special thanks go to our main partner, UCB, whose support was instrumental to the success of this year’s event. We also thank them for their scientific contribution during the sponsored plenary session, which enriched the day’s discussions and demonstrated the company’s commitment to the Rare Diseases Foundation.
A big thank you also to all the Foundation teams who worked hard to make this day both meaningful and enjoyable.