Human Genome Research Project

Eye and Developmental Genetics Research Group

• Head of Unit
• Summary of Research

Head of Unit

Summary of Research

Children with abnormalities from birth are a special group where research will help unravel the underlying causes, and so lead to strategies for treatment for the future.  In the Eye and Developmental Genetics Research Unit, we are particularly studying children with congenital abnormalities of eye development.  Eye problems such as glaucoma and cataract represent significant health problems in the community and many of these children have a major visual handicap or are blind.  This is a severe disability for the child, which in many cases has no effective therapeutic remedy.  In order to address this we need to know more about the underlying disease genes, since in many cases the genetic causes of conditions such as microphthalmia (small eye), anterior segment dysgenesis (abnormalities of the front part of the eye), glaucoma (increased pressure in the eye), cataract (clouding of the lens) and retinal abnormalities (problems at the back of the eye) are unknown. 

Our group aims to elucidate the genetic basis of congenital eye conditions through linkage analysis in large families and breakpoint mapping in patients who have chromosomal abnormalities, since both of these approaches can give a strong pointer to the causative disease gene.  Other individuals with similar anomalies are analysed for mutations in these and other candidate genes for a more detailed understanding of the impact of these human disease genes on eye development.  Elucidation of the genetic basis of these conditions is followed by functional studies in animal models of the pathways involved in the pathogenesis of these eye anomalies.  Outcomes of these studies offer genetic diagnosis and potential for novel approaches for therapeutic and clinical management.