Canada’s rare disease research platform.

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TechVibes The Scientist BioIT World GenomeWeb

The Challenge

Data from ~4,000 Canadian families with rare diseases are scattered across sites and datasets

  • Over 50% of these cases are still unsolved
  • Much of the data is not easily discoverable, accessible, or shareable
  • Joint analysis is difficult due to differences in data reporting and processing

The Solution

A data lake for rare disease research.

Canada has a lot of lakes, more than every other country in the world combined, in fact. But Genomics4RD is the first Canada-wide data lake for rare disease research, providing a centralized repository of structured and unstructured data from 5,000+ participants. You can’t canoe across this lake, but it will power rare disease research across the country.

5,000+ cases

4,000 retrospective families across 14 projects + 1,000 prospective families

Diverse clinical data

Structured phenotype and family history data + genomics + other 'omics (transcript/metabol/lipid-ome)

Computer-readable data-use restrictions

ADA-M and consent codes determine data discoverability and access

Linkage to other rich datasets

Including patient-reported symptoms and outcomes from RareConnect, and healthcare administration data from ICES

Governance and data access

Genomics4RD is an iniatiative of the Care4Rare Canada Consortium.

Researchers have different levels of access to the data depending on their identity and proposed uses, and how the patients said their data could be used.




Public access Consortium members Vetted research projects
Aggregated variants, genes of interest, and coded phenotypes Individual-level variants, processed -omics data, phenotype descriptions, and family history Full access to structured and unstructured data, raw sequence, outcomes

This is formalized in the Genomics4RD Governance Framework, developed by P3G.



For access inquiries or for more information about the Genomics4RD platform, please contact us.