Join the RD-Connect Community

In July 2018 the new RD-Connect Community was launched. This is an international association of individuals and organizations who would like to participate in shaping the rare disease field, promote data sharing and reuse and advance research. Membership is free of charge and open to organisations, research groups and individuals from diverse backgrounds, engaged in rare disease research anywhere in the world. Many ERNs, including VASCERN, will be joining.

To become a member, fill out the registration form! For more information about the RD-Connect Community, click here.

Upcoming Webinars in September:

RD-Connect (the international platform for rare disease data analysis and data sharing), along with Together with ERN EURO-NMD, is organising a series of webinars aiming to train ERN members at all levels. The webinars will let you learn how the RD-Connect tools can help you in your everyday work.

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 can be used by the ERN clinicians themselves to solve their unsolved cases.

Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform

Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain

Thursday 6th September 2018, 15:00 CEST

In this webinar, you will learn how to use the powerful and user-friendly analysis tools in the GPAP 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, and further afield, to find confirmatory cases for your candidate variants.

Finding registries and biosamples in just a few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue

Mary Wang, Fondazione Telethon, Milan, Italy

Tuesday 18 September 2018, 15:00 CEST

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.

Linking up all those data: why should we make data FAIR

Marco Roos, Leiden University Medical Center, The Netherlands

Wednesday 26 September 2018, 15:00 CEST

The webinar will explain what makes data Findable, Accessible, Interoperable and Reusable (FAIR) and why it is critical that different types of information, such as medical records, clinical and phenotypic data, test results, sequencing data and biosample details are made FAIR at the source.