On September 30, 2025, the IMS in Pessac hosted the "Research & Rare Diseases" symposium, organized around a full day of scientific presentations, round tables, and poster sessions, attended by researchers, clinicians, patient associations, and academic partners from the Bordeaux region. After introductions by Bordeaux University Hospital, the Federation of Rare Disease Reference Centers (CRMR), and the Rare Diseases Foundation, the morning was devoted to diagnosis, with work on predicting the need for renal replacement therapy in children, the identification of biomarkers for Rubinstein-Taybi syndrome, and the contribution of high-throughput sequencing in congenital eye malformations, before opening a first round table discussion on the role of patient associations in research.
A large section was then devoted to the humanities and social sciences, highlighting ten years of research in cognitive psychology in Prader-Willi syndrome, the impact of physical activity programs (Marfanpower), psychosocial needs in vascular EDS, dyadic adjustment to albinism, and participation in supportive care for pediatric pain, particularly in sickle cell disease. The afternoon continued with a session on pathophysiology—from CMT-2A peripheral neuropathies to genetic skin diseases such as ichthyosis, including vascular involvement in Marfan syndrome—followed by a round table discussion on valorization and transfer, illustrated by new therapeutic targets such as potassium channels in Williams-Beuren syndrome.
The day concluded with a "Therapies" session presenting clinical trials and emerging therapeutic approaches (Concizumab in Glanzmann's thrombasthenia, lactate pathway in neonatal hypoxia-ischemia, ALAS2 inhibitors for erythropoietic porphyrias), before the awards ceremony for the best poster. Between the two poster sessions and numerous informal discussions, this symposium demonstrated the richness and complementarity of approaches—from predictive modeling in pediatric nephrology to interdisciplinary projects combining neuroscience, genetics, psychology, and patient participation—and strengthened ties within the rare disease ecosystem in Bordeaux and beyond.
A big thank you to our co-organizer, the Rare Diseases Expertise Platform at Bordeaux University Hospital (BexMaRa), as well as our partners Bordeaux University Hospital,the International Order of Anysetiers, and Rare Disease and Orphan Drugs Journal, for their commitment and support in making this day a success.