Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry

- Population-based disease registries are key instruments for rare diseases (RD) research.
- The Spain Rare Disease Registry (Spain-RDR) is an IRDiRC project aimed at creating a national population-based RD registry.
- This paper provides a comprehensive description of rare disease data sources in Spain.
- The estimated number of RD that may be linked to the Spain-RDR is around 1200.
- The Spain-RDR will contribute to improving the planning and management of these diseases.