Data Management & Quality Training

The main objectives of this work package are to decrease rare disease data fragmentation and increase data quality through training activities on data management & quality, which will raise the level of capacities and help data sharing in a FAIR ecosystem and networking within the rare disease community.

The residential training activities proposed within this work package will be held in different countries and will focus on:

  • Orphanet nomenclature and Rd ontologies for RD research
  • Standards and quality of genetics/genomics data in laboratory and clinical research practice
  • Strategies to foster solutions of undiagnosed rare disease cases
  • Sample data management in biobanks
  • Rare disease registries and FAIRification of data at the source
  • Components and interoperability tools of the European Rare Disease Registry Infrastructure