RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

Abstract

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.

Figure 1

Overview of the RD-Connect integrated platform. Raw genomic data from collaborating projects, Neuromics, EURenOmics, and other IRDiRC-supported projects will be securely deposited in the European Genome-phenome Archive before being processed through a standard pipeline to ensure cross-compatibility. The processed data will be held in the central RD-Connect Data Coordination Centre, where it will be combined with other data types plus phenotypic and biomaterial information. Researchers approved by a data access committee will access data through a secure online interface that enables comparison of data sets across projects and analysis with sophisticated bioinformatics tools.

Figure 2

Impact of RD-Connect