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Profile Publications (6)
Name: 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.

Contact Information

Institute of Human Development
University of Manchester
Oxford Road
M13 9PT, United Kingdom

Web Page:
Phone:  +44 (0)161 275 6724