The Global Rare Disease Registry (GRDR) is a web-based data registry for researchers interested in looking across several rare disease repositories. Designed to use the widely adopted i2b2-tranSMART platform for aggregating, securing, and storing patient level data, this registry has been explicitly configured for querying by researchers not proficient in the computer coding skills typically required to access multiple, related data sources originally developed on different platforms.

GRDR aggregates, secures, and stores deidentified patient information from 10 different registries for rare diseases (5,277 patients with 178 different rare diseases) all in one place. This platform allows for the wider dissemination of data collected by individual rare disease registries as well as the increased accessibility of data for researchers conducting intra-registry and cross-registry queries in the genesis of hypotheses for potential study. It uses the BD2K PIC-SURE RESTful API described elsewhere, international ontologies for semantic interoperability, mappings to UMLS Concept Unique Identifiers, and mappings to 55 different GRDR Common Data Elements.

Access

https://grdr.hms.harvard.edu

Instructions

User Guide (PDF)

Video