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Glaucoma Genetics Research &
Glaucoma Stem Cell Research

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:

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  • 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.

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

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

    • TANK-binding kinase 1 (TBK1) gene duplication

    • TANK-binding kinase 1 (TBK1) gene triplication

    • Optineurin (OPTN) mutations (Glu50Lys)

  • Isogenic cell lines are in production to serve as controls

  • Disease modeling experiments are underway

  • We have established that a TBK1 gene duplication stimulates increased autophagy, which may be a key step in glaucoma associated with this mutation. Read more about it here.

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MYOC Glaucoma

We discovered the first glaucoma gene, myocilin (MYOC). MYOC mutations cause 3-4% of glaucoma worldwide and are the most common known cause of glaucoma.

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  • We identified the first glaucoma-causing mutations in myocilin. Read more here.

  • We described the clinical features of glaucoma associated with myocilin mutations. Read more here.

  • We discovered how myocilin mutations cause glaucoma. Read more here.

  • We conducted the first histological analysis of a myocilin glaucoma patient's eye. Read more here.

  • We report CRISPR/Cas9 genome editing of myocilin mutations in mice. Read more here.

  • Access all of our myocilin research articles here.

  • We offer non-profit myocilin testing in our CLIA-certified diagnostic laboratory - The Carver Labs.

TBK1 Glaucoma

We discovered that TBK1 gene duplications and triplications are associated with glaucoma that occurs at average or low eye pressures.

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  • We identified the first glaucoma-causing mutations in TBK1. Read more here.

  • We identified the long-term clinical course of glaucoma associated with TBK1 mutations. Read more here.

  • We used genome sequencing to map the TBK1 gene duplications in several patients. Read more here.

  • We created transgenic mice that have glaucoma due to TBK1 gene duplications  Read more here.

  • We grew retinal ganglion cells (optic nerve tissue) from a TBK1 glaucoma patient's skin. Read more here.

  • Access all of our TBK1 research articles here.

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TBK1 Glaucoma

We discovered that TBK1 gene duplications and triplications are associated with glaucoma that occurs at average or low eye pressures.

​

  • We identified the first glaucoma-causing mutations in TBK1. Read more here.

  • We identified the long-term clinical course of glaucoma associated with TBK1 mutations. Read more here.

  • We used genome sequencing to map the TBK1 gene duplications in several patients. Read more here.

  • We created transgenic mice that have glaucoma due to TBK1 gene duplications  Read more here.

  • We grew retinal ganglion cells (optic nerve tissue) from a TBK1 glaucoma patient's skin. Read more here.

  • Access all of our TBK1 research articles here.

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