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Researcher Home Page : Mr Colin Willoughby

Position Lecturer in Ophthalmology
Organisation Unit of Ophthalmology,
Dept of Medicine,
Duncan Building,
UCD, Daulby St.
University of Liverpool
L69 3GA
Keywords ectodermal dysplasia; ocular genetics; anterior segment genetics; cataract genetics; paediatric ophthalmology

Committees Member of Ectodermal Dysplasia Society Scientific Committee

Current Research Current Research Interest: Genetic Disorders of the Anterior Segment and the Ectodermal Dysplasias

A. Genetic Disorders of the Anterior Segment
My research is currently based on the molecular characterisation of cataract, glaucoma and corneal disorders. Specifically:-
1. We have identified families with a previously genetically uncharacterized phenotype of microcornea and cataract. The molecular characterisation of these families will facilitate the identification of genes involved in the embryological development of the anterior segment and cataractogenesis.
2. The pathogenesis of age-related cataract has a significant genetic component and the evidence suggests a major recessive gene is involved. Understanding the biology of age-related cataract has major implications for world blindness. The molecular characterisation of cataract may identify the first major gene involved in the development of age-related cataract.
3. Investigating the phenotypic spectrum of VSX-1 and its transcriptional control.

B. Ectodermal Dysplasias
This work involves clinical research, molecular genetic research and the utilisation of murine models to investigate the ocular phenotype in ectodermal dysplasia.
I have been appointed on the Scientific Board of the Ectodermal Dysplasia Society (UK) representing ophthalmology nationally in the UK. We are currently investigating mutations in p63 in ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and connexin-26 in Keratitis-Ichthyosis-Deafness (KID) syndrome, and the role these genes play in corneal disease. The tabby mouse is the murine homologue of X-linked anhidrotic ectodermal dysplasia (EDA). The tabby mouse is being used to assess ththe role of peptide growth factors in the ocular phenotype of EDA

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Last Updated : August 2002
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