ELIXIR Rare Disease Community services and international collaborations (2022-23)

The ELIXIR Rare Disease (RD) community encompasses life science IT infrastructure developers, data scientists, and training experts within ELIXIR nodes who specifically target rare disease objectives. Associated are RD stakeholders who define overarching challenges for RD research, such as IRDiRC, ERNs, the EJP-RD, EURORDIS and patient organisations, and other infrastructures that serve the rare disease community, such as EOSC, INFRAFRONTIER, BBMRI, EATRIS or ECRIN.

The ELIXIR Rare Disease (RD) Community will continue to be committed to the International Rare Disease Research Consortium (IRDiRC) Vision for 2027: Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.

To support such vision and facilitate data interoperability and analysis, the Community drives the assembly of service collections relevant for RD research, seeks interactions with other ELIXIR Human Data Communities to adapt and integrate resources and conducts Proof of Concept and pilot implementations of standards and methodologies.

  • Coordinate and align RD research activities related to data resources, tools and services within ELIXIR and with other European and International activities.
  • Demonstrate the exploitation of FAIR data to reduce analytics complexity for data scientists
  • Consolidate the recently created ELIXIR RD Service Collections (former “Bundles”)
  • Disseminate and provide training on services and developments from the ELIXIR RD Community in collaboration with the ELIXIR Training Platform


People involved: 

Sergi Beltran
Ivo Gut
Leslie Matalonga
Marc Hanauer
David Salgado
Marco Roos
Núria Queralt Rosinach
Morris Swertz
Friederike Ehrhart
Venkata Satagopam
Emidio Capriotti
Luana Licata
Anna Marabotti
Claudio Carta
Allegra Via
Krzysztof Poterlowicz
Sven Olaf Twardziok
Brane Leskošek
Marko Vidak
Maria Klapa
Ana Rath
Eleni Mina
Nirupama Benis
Peter-Bram ‘t Hoen
Jumamurat Bayjanov
Tom Lenaerts
Naveed Ishaque
Nikolas Moschonas