In this webinar, you will learn how to use the powerful and user-friendly analysis tools in the Platform to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community,

RARE DISEASE SEMINAR TARGETED FOR COMMUNITY HEALTHCARE PROFESSIONALS Organised by the National Alliance for Rare Diseases Support - Malta in collaboration with the Malta BioBank, BBMRI.mt at the University of Malta. KEY NOTE SPEAKER: Sir Alastair Kent Obe VENUE: Villa Fancia, Lija, Malta

Speaker: Mary Wang, Fondazione Telethon, Milan, Italy; 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. Speaker: Marco Roos, Leiden University Medical Center, The Netherlands; Please register to the webinar here.