HemaFAIR will be represented at ASCAT 2026 with the poster “HemaFAIR: Implementing FAIR principles in real-world Rare Haematological Disease datasets.” The work will be presented by Christina Yiangou from The Cyprus Institute of Neurology & Genetics (CING).
The poster presents HemaFAIR’s work to improve the Findability, Accessibility, Interoperability and Reusability (FAIR) of real-world rare haematological disease data. Patient registries contain valuable clinical, laboratory, treatment, genetic, and longitudinal information, but differences in data structures, terminology, coding, and metadata can limit interoperability and secondary reuse.
Through HemaFAIR, practical approaches are being developed to FAIRify rare haematological disease registries while preserving existing data governance and provenance. The work is demonstrated using the INHERENT international registry and the Cyprus Haemoglobinopathy Patient Registry (CYHAPR).
The presented workflow combines data harmonisation through the OMOP Common Data Model and CARE-SM, RDF and GraphDB-based semantic representation, SPARQL querying, public analytics and structured exports, together with publication of registry- and dataset-level metadata through European rare disease infrastructure and the HemaFAIR FAIR Data Point.
The work demonstrates a reproducible approach for transforming haemoglobinopathy registry data into structured, interoperable, and reusable resources for both human and machine use, while maintaining controlled dissemination and patient-level data governance.
Attending ASCAT 2026? Visit the HemaFAIR poster to learn more about how FAIR principles are being translated into practice for rare haematological disease research.