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
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Characterize glaucoma risk loci
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Determine the specific genetic variations that confer risk for glaucoma
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Determine the effect of these variations on gene expression
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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
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Myocilin (MYOC) mutations (Gly367Arg, Gln368Ter, Tyr437His)
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TANK-binding kinase 1 (TBK1) gene duplication
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TANK-binding kinase 1 (TBK1) gene triplication
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Optineurin (OPTN) mutations (Glu50Lys)
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Isogenic cell lines are in production to serve as controls
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Disease modeling experiments are underway
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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.
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.
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We described the clinical features of glaucoma associated with myocilin mutations. Read more here.
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We discovered how myocilin mutations cause glaucoma. Read more here.
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We conducted the first histological analysis of a myocilin glaucoma patient's eye. Read more here.
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We report CRISPR/Cas9 genome editing of myocilin mutations in mice. Read more here.
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Access all of our myocilin research articles here.
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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.
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We identified the long-term clinical course of glaucoma associated with TBK1 mutations. Read more here.
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We used genome sequencing to map the TBK1 gene duplications in several patients. Read more here.
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We created transgenic mice that have glaucoma due to TBK1 gene duplications Read more here.
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We grew retinal ganglion cells (optic nerve tissue) from a TBK1 glaucoma patient's skin. Read more here.
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Access all of our TBK1 research articles here.
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.
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We identified the long-term clinical course of glaucoma associated with TBK1 mutations. Read more here.
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We used genome sequencing to map the TBK1 gene duplications in several patients. Read more here.
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We created transgenic mice that have glaucoma due to TBK1 gene duplications Read more here.
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We grew retinal ganglion cells (optic nerve tissue) from a TBK1 glaucoma patient's skin. Read more here.
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Access all of our TBK1 research articles here.