Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Profile Publications(6)

Dr.  Emma N. Hilton

Research Description

Structural eye defects – microphthalmia, anophthalmia, coloboma (MAC) – affect around 100 births in the UK annually and cause significant disability. 50% of MAC is hereditary and heterogeneous. In many patients, the genetic basis remains unknown. Gene identification informs diagnosis/prognosis and is crucial for appropriate genetic counselling.

My research focuses on the genetic basis of ocular defects in humans. I study a number of genes in which mutations cause structural eye defects such as congenital cataract and microphthalmia. I am interested in the elucidation of transcriptional networks necessary for eye development in the vertebrate, both as a tool for identifying novel disease genes and to study the key factors underlying this developmental process.