Rare Diseases Use Case

The Rare Disease Use Case extends and generalises the system of access authorisation and high volume secure data transfer developed within the EGA project (see the Human Data Use Case page for details).

The goal of the Use Case is to create a federated infrastructure that will enable researchers to discover, access and analyse different rare disease repositories across Europe. It is doing this in partnership with other European infrastructure projects, namely RD-CONNECT, BBMRI-ERIC and BBMRI-NL.

What the Use Case does

  • Builds a portal through which authorised researchers can access rare disease data from repositories and catalogues around Europe.
  • Builds a portfolio of data resources and analysis tools critical for the rare disease research community.
  • Implements a technical framework for the comparison and standardisation of services useful for this community.
  • Arranges training courses, workshops and hackathons to train rare disease researchers to use ELIXIR services and capture the special service requirements of this community.

Current activities

ELIXIR Finland and BBMRI

ELIXIR Finland (CSC – IT Center for Science) began a collaboration with BBMRI, becoming the main partner and supplier of IT infrastructure services to the BBMRI national centre in Finland (BBMRI.fi). In 2015 ELIXIR Finland began to run the software that BBMRI uses (e.g. sample availability, consent register, research access management service) within 'ePouta', the secure cloud offered by ELIXIR Finland.

How the Use Case is organised

Serena Scollen is Head of Human Genomics and Translational Data and Susheel Varma is the Technical Coordinator of the Use Case at the ELIXIR Hub. The Rare Disease Use Case work is carried out by Work Package 8 in the ELIXIR EXCELERATE project. The Work Package is led by Ivo Gut and Marco Roos.

Serena Scollen
Serena Scollen
(ELIXIR Hub)
Ivo Gut
Ivo Gut
(ELIXIR Spain)
Marco Roos
Marco Roos
(ELIXIR Netherlands)
Susheel Susheel
Susheel Varma
(ELIXIR Hub)

Find out more