Rare Diseases Community

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

The goal of the Community 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 E-Rare.

What the Community does

Maintains a registry of data resources and analysis tools critical for rare disease research

  • The Community works to identify the data resources and tools most used in rare disease research, and to identify resources that are required but that don't currently exist.
  • The portfolio of resources is maintained at bio.tools.
  • The Community has published the results of its 2017 data and tools survey.

Provides a technical framework for the comparison and standardisation of services used by the rare disease communities

  • The Community has developed a rare disease data linkage plan that allows it to test that tools, models, and protocols to standardise data services in the rare disease domain conform to Findable, Accessible, Interoperable and Reusable (FAIR) data principles.
  • To achieve this, the Community collaborates with stakeholders such as RD-Connect, BBMRI(-NL), and the FAIR projects FAIR-dICT and ODEX4ALL.

Builds a portal through which authorised researchers can access rare disease data from repositories and catalogues around Europe

Organises training courses, workshops and hackathons

  • ​ These events train rare disease researchers how to use ELIXIR services, and capture the special service requirements of the Rare Disease community.
  • See the events page for upcoming courses and workshops.

Leadership

Serena Scollen
Serena Scollen
(ELIXIR Hub)
Ivo Gut
Ivo Gut
(ELIXIR Spain)
Marco Roos
Marco Roos
(ELIXIR Netherlands)
Gary Saunders
Gary Saunders
(ELIXIR Hub)
Human Data Coordinator

Find out more