BYOD on rare disease registries and biobanks

On 26-27 November 2014, 40 rare disease and data integration experts took part in a ‘Bring Your Own Data’ workshop on rare disease registries and biobanks. Held in Rome, the event was organised by DTL, part-sponsored by ELIXIR and organised in conjunction with the EU-funded RD-CONNECT project.

The aim was to better link the data from rare disease registries and biobanks and by doing so remove the silos that prohibit research and development in this field. The event also helped train the data owners in how to apply data integration techniques.

Outcomes:
The results of the event have been presented through talks and posters at several conferences and events including:
• The preceding EpiRare symposium
• The Semantic Web Applications and Tools workshop 2014 in Berlin
• The RD-Connect annual meeting

In addition, RD-Connect since formed a developer task force in support to demonstrate results through its platform and an ELIXIR Pilot proposal has been drafted as follow-up, to explore this approach further and help coordinate shared ambitions of RD-Connect, BBMRI-NL, BBMRI-ERIC, BioMedBridges, and the rare disease use case within ELIXIR-EXCELERATE.