RD-Connect is an EU-funded integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. To help researchers study rare diseases, RD-Connect 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 share, RD-Connect speeds up research, diagnosis and therapy development to improve the lives of patients with rare diseases.
RD-Connect is working together with the ERNs, to support them in the research and diagnostic goals. RD-Connect provides its expertise on sharing and linkage of data and in 2018, as part of the Solve-RD project, RD-Connect has started a pilot on re-analysis of existing exomes in four ERNs and six more ERNs are planning to join later. Solve-RD will use the RDConnect Genome-Phenome Analysis Platform to enable clinicians and researchers from the ERNs to analyse, share and diagnose their most challenging unsolved cases. By the end of 2019, Solve-RD will submit up to 19,000 undiagnosed exomes from ERNs. All ERNs are invited to submit their sequencing data and analyse them in RD-Connect.
In this context, RD-Connect is organising a series of webinars aiming to train ERN members on all levels. The webinars will let you learn how the RD-Connect tools can help you in your everyday work. The tools are designed to help clinicians and researchers study and diagnose rare diseases.
At the webinar, you will learn how to use the powerful and user-friendly analysis tools in the Platform to interpret next generation sequencing data, find disease-causing mutations and diagnose your rare disease patients. The system allows you to compare your data with data submitted by others to find confirmatory cases for your candidate variants.
This webinar will demonstrate how to use two tools, that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let you find rare disease biobanks and browse their sample collections, with detailed information about each individual sample.
The webinar will explain what are Findable Accessible Interoperable and Reusable (FAIR) data and why it is critical that different types of information, such as medical records, examination tests, sequencing results and availability of biosamples, are made FAIR at the source.
If you are interested on attending some of the webinars, please register here. You will receive the link to the webinar by email closer to the date.