Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke Van Der Horst, Pedro Lopes, Rajaram Kaliyaperumal, Mark Thompson, Rachel Thompson, Núria Queralt-Rosinach, Estrella Lopez, Libby Wood, Agata Robertson, Claudia Lamanna, Mette Gilling, Michael Orth, Roxana Merino-Martinez, Manuel Posada, Domenica Taruscio, Hanns Lochmüller, Peter RobinsonMarco Roos, José Luís Oliveira

Research output: Contribution to journalArticle


Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries.

Original languageEnglish
Article number8327980
JournalBioMed Research International
Publication statusPublished - Jan 1 2017


  • Rare Disease Registries

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)

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  • Cite this

    Sernadela, P., González-Castro, L., Carta, C., Van Der Horst, E., Lopes, P., Kaliyaperumal, R., Thompson, M., Thompson, R., Queralt-Rosinach, N., Lopez, E., Wood, L., Robertson, A., Lamanna, C., Gilling, M., Orth, M., Merino-Martinez, R., Posada, M., Taruscio, D., Lochmüller, H., ... Oliveira, J. L. (2017). Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. BioMed Research International, 2017, [8327980].