A three-day hackathon on 30 June - 2 July in Rome kicked off a new ELIXIR Pilot action on rare diseases. The event - organised jointly by RD-CONNECT, Leiden University, Istituto Superiore di Sanità and ELIXIR - gathered experts from biobanks, registries and biomolecular resources for the rare disease community to work on linking materials and data from biological and clinical repositories for rare diseases.
The participants followed the Bring Your Own Data (BOYD) concept that enable data owners te get acquainted with the possibilities offered by 'functionally interlinking' data with other important datasets. The focus of the event was on interoperability and software for rare diseases, scenarios for the integration of registries and biobanks, and the technical infrastucture to support federation of rare diseases resources.
The hackathon was part of a Rare disease Use Case Pilot, a joint initiative of the EU-funded RD-CONNECT project, BBMRI-NL, BBMRI-ERIC and ELIXIR. Its aim is to create a federated infrastructure that would enable access to different rare disease repositories across Europe. The ELIXIR role is to test different technologies for interoperability backbone for the rare disease community which which will feed into the Rare Disease Use case within ELIXIR-EXCELERATE.