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