Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry
2015; Elsevier BV; Volume: 129; Issue: 3 Linguagem: Inglês
10.1016/j.puhe.2014.12.013
ISSN1476-5616
AutoresAna Clara Zoni, M. Felicitas Domínguez‐Berjón, E. Barceló, María D. Esteban‐Vasallo, I. Abaitua, J. Jiménez Villa, M. Margolles Martins, Carmen Navarro, Manuel Posada de la Paz, Julián Mauro Ramos Aceitero, C Santos, Óscar Zurriaga, Jenaro Astray Mochales,
Tópico(s)Genomic variations and chromosomal abnormalities
Resumo• 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.
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