Uveitis Genomics: Building on Global Success
The i3eye Consortium draws lessons from successful genomic consortia like the International MS Genetics Consortium and International Glaucoma Genetics Consortium, which achieved remarkable scaling-to-impact over 15 years:
MS Genetics Consortium
Formation & First GWAS: IL2RA, IL7R
Expansion: 5k cases, 20-50 loci
International GWAS: 52 loci (29 novel)
47k cases, 200+ loci, T & B cell pathways
Functional genomics, epigenomics, gene expression
Severity, Translation, Precision Medicine
From 2 loci → 200 loci → mechanisms → disease progression biology
Glaucoma Genetics Consortium
Formation: ~8 loci
Expansion: 100k+ samples
Breakthrough: 127 loci
IOP, CDR, Biologic Pathways
600k+ samples, Translational, Precision Medicine
From small cohorts → global scale → biological insights → precision medicine
i3eye Current Focus
Genome-Wide Association Studies (GWAS)
Identifying common genetic variants associated with uveitis, optic neuritis, and scleritis across diverse ancestries.
Standardized Phenotyping
Using SUN criteria for uveitis and Lancet Neurology ICON criteria for optic neuritis to ensure consistent data collection.
Functional Genomics
Understanding mechanisms through fine mapping, epigenomics, and gene expression studies.
Endophenotype Analysis
Studying disease modifiers like severe vision loss, steroid dependency, and bilateral involvement.
Pathway Discovery
Mapping shared immune pathways across uveitis and systemic inflammatory diseases.
Precision Medicine
Developing genetic risk scores and biomarkers for disease severity and treatment response.