The European Commission’s science and knowledge service

Joint Research Centre

European Platform on Rare Diseases Registration

3rd European Reference Networks Conference Vilnius, 9 March 2017


See full presentation

RD-Action continued the work of the previous Joint Action (EJA) to support the Rare Disease field in conceptualizing, implementing, and evolving  European Reference Networks (ERNs).


Key Outputs relating to ERNs, 2015-2018: 

Summary of RD-ACTION Support for ERNs (2015-18) Four-page Overview summarising the main forms of RD-ACTION support for ERN implementation and cooperation around key policy priorities June 2018
New: Report on RD-ACTION Support to European Reference Networks One of the final project Deliverables, this Report summarizes the types of activity undertaken by RD-ACTION WP6 (led by Newcastle University) to support the conceptualization, implementation and evolution of ERNs. This report outlines hands-on support in identifying HCPs wishing to lead and join ERNs in the rare disease field;  explains the steps taken to build awareness of key issues of relevance to all Networks; and outlines the major workshops organised to help the ERNs add value in areas of strategic relevance for rare and specialized diseases September 2018
New: Conclusions and Next Steps from the workshop ‘How ERNs can provide added value in the area of clinical research’ This is the key output of the May 2017 workshop organised by RD-ACTION, EMA and DG SANTE, alongside the ERN WG on Research. This Report highlights the main discussion points and suggestions around each of the 4 debate topics for the workshop. Includes a table listing the numerous -and varied- Action Points/Next Steps emerging from the workshop discussions. November 2018
Workshop Resources ‘How ERNs can provide added-value in the area of clinical research’ The dedicated webpage for our final workshop co-organised with the EMA and DG Sante, hosting the agenda, presentations, outputs and links to the recording of day 1. May 2018
Integrated & Holistic Care Workshop Output – Recap on Breakout Session Summary of the key discussions from the Workshop -co-organised with INNOVCare- on Integrated and Holistic Care for rare diseases, with proposals for ERNs and their component HealthCare Providers April 2018
Workshop Resources ‘Creating a Sustainable Environment for Holistic & Innovative Care for Rare Diseases & Complex Conditions’ The dedicated webpage for our workshop (12-13 Apr, 2018, Frambu, Norway) co-organised with INNOVCare, hosting the agenda, presentations and outputs April 2018


RD-ACTION article website

RD-Connect videos

RD-Connect Friday, 01 March 2019 10:34


Watch the RD-Connect video tutorials, testimonies and webinars. All videos are available on the RD-Connect YouTube Channel.

RD-Connect website



Analysing autosomal recessive variants Uploading phenotypic data in PhenoTips Filtering variants using OMIM and ORDO terms
Tagging variants Searching across the whole database



Registry & Biobank Finder - adding your registry/biobank Registry & Biobank Finder - searching for registries/biobanks Sample Catalogue webinar for biobank managers


Recommendations to create Rare Disease Registries



What is RD-Connect? - EURORDIS webinar General Data Protection Regulation - EURORDIS webinar Patient perspective on data sharing in rare disease research



Genome-Phenome Analysis Platform Registry & Biobank Finder and Sample Catalogue Linking up all those data - why should we make data FAIR?

RD-Connect Community

RD-Connect Friday, 01 March 2019 10:32


The RD-Connect Community is an independent, non-governmental, not-for-profit, international association of individuals and organizations sharing the vision of building an open community that works to improve rare disease research. The Community’s mission is to promote, facilitate and accelerate rare disease research by maximizing the availability and (re)use of rare disease data and biosamples through provision of infrastructure, tools and services to share, analyse and link datasets and biosamples in a secure and regulated way. By promoting data sharing and analysis tools and the data sharing ethos among rare disease researchers and clinicians and by raising awareness among patient communities and policy makers, the community aims to maximise the impact of the tools and services developed by RD-Connect members.


See Official ERNs Brochure

Cookies make it easier for us to provide you with our services. With the usage of our services you permit us to use cookies.
More information Ok