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Since 1990, I have worked on the genetics of developmental malformations of the human eye. We identified a number of major genes implicated in aniridia and microphthalmia/anophthalmia. PAX6, SOX2 and OTX2 are three key transcription factor genes implicated in these diseases. Having identified the genes, we have explored the broader biological role of these genes in development and disease, using deep observation of human cases and studies in model organisms including mouse and zebrafish. Our studies have encompassed the spectrum of dominant (haploinsufficient) mutations in these genes associated with disease. Some disease-causing mutations are associated with the extensive regulatory regions controlling the expression of these genes. These have led us to study mechanisms of long-range control of gene expression, particularly for the PAX6 gene. Variations in phenotypic spectrum also prompted some work on factors implicated in this phenomenon. With many developmental abnormalities phenotypic variability and non-penetrance (no disease, despite the presence of mutation which does lead to disease in other carriers) are quite frequently observed. We have focussed on the role of chaperones and associated proteins in this context.
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Acta Ophthalmologicano. S275 (2022)
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