#EBW26 Previews: 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.

Anne-Marie Vangsted is Executive Vice President at Statens Serum Institut, a position she has held since 2020. She is in charge of the Danish National Biobank (DNB), Congenital Disorders and Vaccine Preparedness including seven departments.  

She has held positions as Director General of the Danish Patient Safety Authority, Executive Vice President of the Danish Health Authority and Senior Director of Division at the Danish Medicines Agency. 

Dr. Elne Conradie

Dr. Elne Conradie is a professional chemist with a PhD in Environmental Science and Management, specialising in biobanking and quality management. She is the Quality Assurance and Biobank Manager at North-West University’s Centre for Human Metabolomics.

A committed rare disease advocate, she co-founded South Africa’s first rare disease biobank in 2019 and has since been actively involved in advancing disease domain-specific biobanks in resource-diverse settings. She serves on several national and international biobanking committees and contributes to initiatives focused on governance, quality, and network development. Her work emphasises collaboration, capacity building and the role of rare disease biobanks in enabling impactful translational research. 

Session details 

• Date: Thursday 21 May
• Time: 16:45 – 17:45