Background

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RareLink was developed as a response to the widespread challenges in rare disease (RD) data management, specifically the lack of interoperability and standardization in healthcare information systems. As REDCap is widely used in clinical studies and registries for data collection, RareLink was designed to leverage REDCap’s capabilities to facilitate the collection, processing, and sharing of RD data. The framework ensures that RD data is captured, processed, and exported following a predefined common data model that facilitates downstream analysis using international standards. Furthermore, RareLink provides a rule-based approach for the design of REDCap instruments to extend the RD common data model with additional data elements.

The integration of ontology codes and the connection to the BioPortal Ontology Server enables researchers and clinicians to use standardized terminologies, ensuring that data can be easily shared and reused across different platforms and research networks. By leveraging HL7 FHIR and the GA4GH Phenopacket Schema, RareLink supports the creation of interoperable and reusable RD datasets.

In the following we provide an overview of the different components of the RareLink framework, including the interoperability features, the supported ontologies, the GA4GH Phenopacket Schema, the HL7 FHIR standard, the RD CDM, and the REDCap data collection platform.

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