9A: Disease domain-specific biobanks – Rare disease insights

This session explores domain-specific biobanks for rare diseases, emphasising the importance of cross-border collaboration and networks like the EuroBioBank (EBB). Discover innovative strategies for extensive sample collection, data integration and (inter)national partnerships that drive research breakthroughs, improve diagnostics and accelerate targeted therapy development for patients with rare conditions.

Speakers included in this session:

• Katharina Hofmann – The key role of tissue biobanking in diagnostics of fungal diseases in organ transplants by tissue-based approaches

• Kristina Vodorezova – Harmonization of common data elements for rare disease biobanks and registries using the CARE-SM semantic model

• Roger Snijder – Practical application of FISMA in the Duchenne/Becker Biobank at LUMC: Curated registration at the source yields RWD for many purposes

• Sara Mechregui – Integration of Neurosciences Biobank of Bologna in clinical-care pathway: A strategic model for rare disease research in hereditary optic atrophy

This session will be chaired by Anne-Marie Vangsted, MscPh. and Dr. Elne Conradie.