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My research interests are the genetics and functional genomics of ocular disease. My current interests include developing a therapy for the bestrophinopathies (retinal degenerations associated with the BEST1 gene) using small molecules and the genetics of primary open angle glaucoma.
Mutations in the BEST1 gene were first associated with macular degeneration (the central part of the retina responsible for detailed colour vision) in Best disease. The protein product of the gene is called bestrophin-1, and it forms an ion channel in the retinal pigmented epithelium (RPE), the pigmented layer of cells at the back of the retina. We described a new condition, autosomal dominant vitreoretinalchoroidopathy (ADVIRC), associated with mutations in BEST1 and showed that ADVIRC mutations cause mistakes in gene splicing, the process where the cell machinery pieces together different parts of a gene. We then discovered a third disease, autosomal recessive bestrophinopathy (ARB), which results from a lack of active bestrophin-1.
Mutations in the BEST1 gene were first associated with macular degeneration (the central part of the retina responsible for detailed colour vision) in Best disease. The protein product of the gene is called bestrophin-1, and it forms an ion channel in the retinal pigmented epithelium (RPE), the pigmented layer of cells at the back of the retina. We described a new condition, autosomal dominant vitreoretinalchoroidopathy (ADVIRC), associated with mutations in BEST1 and showed that ADVIRC mutations cause mistakes in gene splicing, the process where the cell machinery pieces together different parts of a gene. We then discovered a third disease, autosomal recessive bestrophinopathy (ARB), which results from a lack of active bestrophin-1.
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Molecules (Basel, Switzerland)no. 8 (2023): 3317-3317
Frontiers in cell and developmental biology (2023): 1161548
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