Despite examples of excellent practice, rare disease research is still largely fragmented by data type and by disease. Individual efforts have little interoperability and almost no systematic connection of detailed clinical information with genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Connect will develop a critical mass for harmonisation and provide a strong impetus for a global "trial-ready" infrastructure to support the IRDiRC goals for diagnostics and therapies for RD. It will build on and transform the current state-of-the-art across databases, registries, biobanks, bioinformatics and ethical considerations to develop a quality-assured and comprehensive integrated hub/platform in which complete clinical profiles are combined with -omics data and sample availability for RD research. The integrated, user-friendly RD-Connect platform, built on efficient informatics concepts already implemented in international research infrastructures for large-scale data management, will provide access to federated databases/patient registries, biobank catalogues, harmonised -omics profiles and cutting-edge bioinformatics tools for data analysis. All patient data types will be linked via the generation of a unique identifier ("RD-ID") developed jointly with the US NIH. The RD-Connect platform will be one of the primary enablers of progress in IRDiRC-funded research and will facilitate gene discovery, diagnosis and therapy development.
Hanns Lochmüller, Newcastle, UK