2026 Volume 3 Issue 2 Pages 80-85
Rare and genetic diseases are characterized by limited patient numbers per condition, making it difficult for single institutions to accumulate sufficient cases for gene discovery, phenotype delineation, and diagnostic advancement. International case sharing has therefore become essential for accelerating rare disease research and improving diagnostic yield. Although global initiatives such as the Matchmaker Exchange and Phenopackets have established standards and infrastructures for interoperable case sharing, participation is often limited to large national projects, and many institutions lack mechanisms for secure international connectivity and standardized case structuring.
Here, we present CaseSharing, a distributed case-sharing system designed to enable secure, cross-institutional collaboration without centralized data aggregation. The system allows users to manage structured case data locally while registering only non-identifiable attributes—such as gene names or diagnoses—to a cloud-based matching database. This architecture preserves privacy while enabling automated case matching and direct researcher-to-researcher collaboration. Case data are structured using standardized vocabularies and can be exported in international formats, including GA4GH Phenopackets, ensuring interoperability with external platforms and analytical pipelines.
CaseSharing builds upon the design philosophy established in PubCaseFinder, emphasizing structured representation, reusability, and interoperability of clinical information. The platform supports routine case organization, pedigree visualization, and statistical summaries, facilitating both case curation and research use.
By transforming cases from isolated records into shareable research resources, CaseSharing provides a distributed infrastructure that promotes national and international connectivity of rare disease cases. This framework represents a scalable model for integrating local clinical environments with global data-sharing networks and advancing collaborative rare disease discovery.
