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.
We’re an internationally certified clinical trial unit, conducting clinical trials in eye genetics and inherited retinal diseases.
Our clinical trials are conducted according to the strict guidelines of the ICH GCP (International Conference on the Harmonisation of Good Clinical Practice) and our staff are experienced and internationally certified in vision assessments and retinal imaging procedures. Study staff maintain current certifications across multiple reading centres worldwide in all retinal imaging procedures including optical coherence tomography, fundus autofluorescence and retinal photography.
Therapies are becoming available for inherited retinal diseases (IRD). IRD in general progress slowly over time often with declines in function followed by long period of stability. To be able to detect if potential therapies are effective there is a need for an understanding of he disease progress in individuals. The Eye genetics and Inherited retinal disease group have developed clinical protocols in collaboration with international and local centres to standardise these assessments.