WORKSHOP RD-Connect: an integrated platform connecting databases, registries and omics data for rare disease research

Co-chaired by Sergi Beltran (CNAG, Barcelona), Marco Roos (LUMC, Leiden), and RD-Connect partners

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole cohort level to enable researchers to gain a complete view of their disease and patient population of interest.

RD-Connect is a unique global infrastructure project that links up databases, registries, biobanks and clinical bioinformatics data used in rare disease research into a central access point for researchers worldwide. Our project is developing an integrated research platform in which complete clinical profiles are combined with -omics data and sample availability for rare disease research, in particular research funded under the International Rare Diseases Research Consortium (IRDiRC).

In this workshop we will introduce the rare disease case and progress towards opening bridges in the rare disease community.

Topics in this workshop:

  • The rare disease landscape: omics resources including NeurOmics, EURenOmics, biobanks and registries
  • The RD-Connect platform: a portal for rare disease research

Elements of the RD-Connect platform
Standardised deep phenotyping of participant donors
Standardised processing of Omics data
Interactive analysis, discovery and sharing of Omics data through the GUI and connection to other tools (demo/tutorial)

  • Rare disease interoperability: pilot use case, Bring Your Own Data (BYOD) registries and biobanks; the role of Linked Data, Ontologies and APIs
  • Critical resources for discovery: HPO, ORDO, ID-Card, OMICS sources, registries and biobanks, linkable data sources e.g. EBI, and Monarch

Discussion topics:

  • ELIXIR, CORBEL and rare diseases
  • Sustainability of the RD-Connect platform
  • Mechanisms to handle an intrinsically fragmented landscape
  • FAIRness (findable, accessible, interoperable, and reusable) of rare disease resources, and of resources that are critical for discoveries towards treatment of rare diseases