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

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

Web Page: http://www.human-development.manchester.ac.uk/staff/emmahilton/
Phone:  +44 (0)161 275 6724