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OUR 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:

  • 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)

    • 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.

  • 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.

  • 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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