We study the genetics of inherited human diseases, identifying causative genes which point to the mechanisms of disease causation, and also normal biology. Our focus is on developmental eye anomalies (eg no iris, small or absent eyes). The top three identified genes, PAX6, SOX2 and OTX2, are high in the gene hierarchy regulating eye and brain development. In addition to targeting lower level genes, they bind to DNA regions within and around each other, and also self-regulate. The networks formed are critical for successful development. We study disease-causing protein changes and have pioneered studies of large regulatory regions and variants.
Our children were born while I was a young postdoc. With a purely research post and good employer, it was possible to accommodate home and career. A domestically helpful husband has been a great asset too. We chose nursery care, which allows children to be socialised without fixating on just one carer. My ambitions grew with increasing maturity, so that I could accommodate committee work, as well as research and travel, once the children were self-sufficient and I was not yet too ancient. Gradual retirement is important, providing ample opportunity for contributing and mentoring, without taking resources from younger scientists.