Rare Disease test case for ELIXIR Interoperability backbone

This study is associated with the ongoing work of the Rare Disease Community.

Access to multiple biological and clinical resources without too many barriers is of critical importance in the rare diseases field. Because of the low frequency in the population, combining data across registries, biobanks, and -omics databases is the single most important way of finding materials and gaining new insights. 

This Rare Disease project was a joint initiative of the EU-funded RD-CONNECT project, BBMRI-NL, BBMRI-ERIC and ELIXIR. Its aim was to create a federated infrastructure that will enable access to different rare disease repositories across Europe. ELIXIR's role was to test different technologies for the interoperability backbone, which will feed into the rare disease use case within ELIXIR-EXCELERATE.

The study has now finished, the details are set out in the end report

The outcome of this study is summarised in a webinar 

Other Implementation Studies:


1 May 2015 to 31 October 2015

Nodes involved: 


People involved: 

Helen Parkinson
Marco Roos
Ana Rath