Rare Disease Community

The GA4GH Rare Disease Community (RD Community) is a forum for researchers, clinicians, and technical experts to define, discuss, and advance real-world rare disease use cases through the implementation of GA4GH interoperability standards. Bringing together rare disease genomics projects interested in data infrastructure, management, analysis, and sharing, the RD Community is uniquely positioned to bridge the gap between the clinical and technical rare disease communities.

The community hosts informational presentations on implementing GA4GH standards within rare disease platforms and collaborative workshops focused on specific challenges within the community. Past discussions have included encoding longitudinal phenotypes, communicating and exchanging phenotypes in human language, and defining and sharing statistical data on phenotypes in diagnosed cohorts.

Patient consent and data collection

• Standardised phenotype collection - through APIs, terminologies, and schemas
  • Clinical and research encounters 
  • Electronic Health Records (EHR) 
  • Longitudinal records
• Consent and patient education
• Privacy preserving record linkage
• Capture of environmental and non-genetic factors

Data access, sharing, and analysis

• Schemas and APIs for data sharing
• Data protection stipulations
• Variant matching implementations
• Access to full patient data (such as VCF files or phenotypes)
• Functional data, animal model, and cell line sharing
• Machine learning on data
• Broad access to updated literature curation
• Transmission of phenotypes

Knowledge sharing

• Sharing variants and the evidence base to ClinVar
• Gene-disease validity to GenCC
• Building knowledge for the phenotypic spectrum of gene-disease combinations