An invitation for ERN HCPs to join RD-Connect, an international platform for rare disease data analysis and data sharing
RD-Connect is an EU-funded integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. It provides user-friendly tools for data analysis and links different data types - omics (e.g. genomics), clinical information, patient registries and biobanks - into a common resource. By enabling scientists and clinicians around the world to analyse and share data and biosamples, RD-Connect speeds up research, diagnosis and therapy development to improve the lives of patients with rare diseases.
RD-Connect has built three integrated online systems open to any rare disease:
- Genome-Phenome Analysis Platform for analysis and sharing of omics data to diagnose patients and discover new disease genes
- Registry & Biobank Finder, a global directory of rare disease patient registries and biobanks
- Sample Catalogue, which helps researchers find rare biosamples stored in biobanks
RD-Connect is open for data submissions from ERNs and already holds thousands of secure, pseudonymised datasets. Data are linked at an individual per-patient level. Researchers can analyse data, find similar cases and related information such as availability of biomaterials. In collaborations with other EU projects, RD-Connect has already contributed to the discovery of dozens of novel disease genes.
Opportunities for ERN clinicians to use RD-Connect tools
RD-Connect is working together with the ERNs to support them in their research and diagnostic goals. In particular, the RD-Connect Genome-Phenome Analysis Platform (GPAP) can be used by the ERN clinicians themselves to solve their unsolved cases. In 2018 and 2019, as part of the Solve-RD project, the RD-Connect Genome-Phenome Analysis Platform will be used by clinicians and researchers from four ERNs for reanalysis of 19,000 undiagnosed exomes towards diagnosis and gene discovery. GENTURIS, EURO-NMD, ITHACA, and ERN-RND are full partners in Solve-RD, with six more ERNs as associated partners. However, all ERNs are invited to submit their sequencing data and analyse them in RD-Connect, so if you have a cohort of undiagnosed patients with NGS data you would like support in reanalysing, we would love to hear from you!