Our research aims to develop new treatments for blinding genetic eye diseases. Our group undertakes research that investigates the genetic causes contributing to blinding eye diseases to improve diagnosis and treatment of these conditions. We have an international reputation in inherited retinal diseases including conditions such as retinitis pigmentosa, Cone-rod dystrophies, Stargardt disease, macular dystrophies, achromatopsia and congenital stationary night blindness.
The group is working closely with NSW Ocular Gene and cell therapy unit to bring new therapies to patients in Australia.
Recent advancements in next-generation sequencing (NGS) of DNA has meant significant progress in the identification of disease genes that cause inherited eye diseases. This information is critical in developing new treatments to preserve or restore vision.
Our team applies exome sequencing, targeted NGS as well as whole genome sequencing to investigate various disease genes in patients.