Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey.
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SUBMITTER: Papa R
PROVIDER: S-EPMC6993334 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
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Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey.
Papa Riccardo R Cant Andrew A Klein Christoph C Little Mark A MA Wulffraat Nico M NM Gattorno Marco M Ruperto Nicolino N
Orphanet journal of rare diseases 20200130 1
The Rare Immunodeficiency, AutoInflammatory and AutoImmune Disease (RITA) network is a European Research Network (ERN) that brings together the leading centres for rare immune disorders. On April 2018 an online survey was sent to all RITA members in order to facilitate the harmonization of data collection in rare immune disorders registries. Currently, as many as 52 different registries collect data on rare immune disorders, of whom 30 (58%) are dedicated primarily to autoimmune diseases, 15 (29 ...[more]
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Project description: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.
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| S-EPMC9664433 | biostudies-literature