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0Researchers have developed RareLink, an open-source framework designed to solve data sharing challenges in the field of rare disease research. By integrating a standardized common data model into the widely used REDCap platform, the system allows scientists to collect complex patient information with high semantic precision. RareLink facilitates the seamless export of clinical data into international formats such as HL7 FHIR and GA4GH Phenopackets, making datasets instantly usable for global analysis and registry linkage. The framework was iteratively refined through international collaborations across Germany, Canada, South Africa, and Japan to ensure its scalability. Its primary goal is to promote equitable research by enabling institutions worldwide to contribute high-quality, interoperable data regardless of their local technical constraints. Broad adoption of this tool could significantly reduce the fragmentation of rare disease datasets and accelerate the path toward precision medicine and improved diagnostics.
References:
Graefe A S L, Rehburg F, Alkarkoukly S, et al. RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets[J]. NPJ Genomic Medicine, 2025, 10(1): 72.
