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Genetic analysis of the OHTS cohort

The Ocular Hypertension Treatment Study (OHTS) was a landmark clinical trial that demonstrated the efficacy of lowering eye pressure in preventing or delaying the onset of glaucoma. Our primary goals are:

  • Create glaucoma risk calculators with genetic factors

  • Characterize glaucoma risk loci

    • Determine the specific genetic variations that confer risk for glaucoma

    • Determine the effect of these variations on gene expression

  • We have shown how variants in the TMCO1 gene increase the probability for glaucoma in OHTS participants. Read more about it here.

Stem Cell Approaches to Glaucoma Research

We have collected cells from 1000+ patients with glaucoma for research in collaboration with our colleague Dr. Budd Tucker and his stem cell laboratory.

  • We have obtained cells from patients with known molecular causes of their glaucoma

    • Myocilin (MYOC) mutations (Gly367Arg, Gln368Ter, Tyr437His)