As part of a close working relationship between EURO-NMD and RD-Connect we are delighted to announce a series of highly relevant and informative webinars for any researchers who are involved in an ERN.

RD-Connect enables scientists and clinicians around the world to analyse genomics data and share them with other researchers.

By making data accessible beyond the usual institutional and national boundaries, RD-Connect speeds up research, diagnosis and therapy development to improve the lives of patients with rare diseases.

RD-Connect, a platform connecting rare disease researchers worldwide

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 has built three integrated online systems open to any rare disease:

RD-Connect is open for data submissions and already holds thousands of secure, pseudonymised datasets, including linked omics and phenotypic data, biosamples and information about rare disease patient registries and biobanks. Data are linked at an individual per-patient or per-sample level. Researchers can analyse data, find similar cases and related information such as availability of biomaterials. In collaborations with several projects, RD-Connect has already contributed to the discovery of dozens of novel disease genes.

Watch the RD-Connect Introductory Video

Interaction with the ERNs

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: GENTURIS, EURO-NMD, ITHAKA, and RND, and six more ERNs are planning to join later. Solve-RD will use the RD-Connect 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.


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.

Finding registries and biosamples in just 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.

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

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

Date & Time – TBC

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.

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

Marco Roos, Leiden University Medical Center, The Netherlands

Date & Time – TBC

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.

As we need to estimate the number of participants, please register to the webinars. You will receive the link to the webinar by email closer to the date.

Register for webinars here

RD-Connect Community

Launch of the RD-Connect Community

The new RD-Connect Community which was launched in July 2018 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.

Find out more about the RD-Connect Community.

Interested in joining? Fill out the registration form to become a member!

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission

“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit