RD-Connect: an integrated platform for rare disease research
RD-Connect is an EU-funded platform that enables researchers and clinicians easily access, analyse and exchange information about rare diseases. By connecting different data types – omics (e.g. genomics), clinical phenotypes, patient registries and biobanks – across institutions and countries, RD-Connect speeds up research, diagnosis and therapy development for rare diseases.
The RD-Connect integrated platform consists of three systems:
Genome-Phenome Analysis Platform enables researchers and clinicians to analyse DNA sequencing data linked to clinical information (even with no bioinformatic training!) and find patients with matching genotype and phenotype. This helps to discover new disease genes and diagnose patients.
Registry & Biobank Finder helps users find patients registries and biobanks that store data or samples on their rare disease of interest. The system provides contact information and numbers of cases registered for each disease in each registry/biobank.
Sample Catalogue lets users find rare biosamples and request them from biobanks. The system provides detailed information about individual biosamples, including not only the disease, sample type, sex and availability of genetic and registry data, but also genotype, diagnosis type, and availability of longitudinal samples and samples from unaffected family members. Users can browse sample collections using powerful filtering functions and search via disease names or codes.
All tools are available free of charge. To protect patient sensitive data, Genome-Phenome Analysis Platform is accessible only to registered and verified researchers and clinicians.