Gene identification in Congenital Cataract using high throughput sequencing technology
The Flinders University of South Australia
Channel 7 Children's Research Foundation
Dr Kathryn BURDON
Congenital cataract is a common cause of childhood blindness. The prevalence in Australia is around 2.2 per 10,000 births and can lead to lifelong visual impairment or blindness. Many cases have a genetic basis. Over 25 genes have been reported to date and many genes are yet to be identified. This project will screen a large repository of DNA samples from patients for mutations in these known genes, then undertake gene discovery in families with no mutation using modern high throughput genomic technology, for providing molecular genetic diagnosis.
Dr Kathryn Burdon (email) Post Doctoral Fellow School of Medicine, Ophthalmology Flinders University Business: (08) 8204 5892