Databases, biobanks and clinical bio-informatics hub for rare diseases

Despite examples of excellent practice, rare disease (RD) research is still mainly 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 ready to support the IRDiRC goals for diagnostics and therapies for RD in close collaboration with the successful A and B projects. 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.

The CNAG will participate in RD-Connect leading WP5 (Unified Platform) and will contribute to most of the other work packages. More specifically, the CNAG will implement and operate a set of standard pipelines to process all the molecular data generated by the B projects. In addition, it will actively participate in building a portal acting as a centralized entry point with controlled access integrating the processed data, the phenotypic information and the analysis tools.

More information

RD-Connect website

Hanns Lochmüller