| 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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