Group Leaders – Professor Robyn Jamieson and Professor John Grigg
The Eye Genetics Research Unit aims to develop new treatments for blinding genetic eye diseases. The group undertakes research that investigates the genetic causes contributing to blinding eye diseases to improve diagnosis and treatment of these conditions. The group has 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.
We also investigate genetic disorders that affect the front of the eye including congenital cataract anterior segment dysgenesis, childhood glaucoma and whole of eye disorders such as microphthalmia. We aim to discover the underlying disease genes and the functions of the proteins they encode. We use next-generation sequencing techniques and genomic investigations to pinpoint disease genes. The functions of the disease genes are investigated using stem cell and mouse model systems, which provide a passage to development of novel treatment strategies. The Eye Genetics Research Group uses whole genome approaches in human patients to identify underlying disease genes in eye and other developmental diseases. Cell based and animal model studies are undertaken to understand how the disease genes lead to the particular abnormality. We are also investigating new ways to target specific eye cells and correct gene mistakes for development of novel treatments for these conditions.
This research group has benefited from recent advances in next-generation sequencing (NGS) of DNA, with significant progress made in the identification of known and novel disease genes that cause inherited eye disease, critical information in the development of new treatments to preserve or restore vision.
One NGS technique currently being utilised is exome sequencing, where all of the coding regions of an individual’s 23,000 genes are sequenced in one single test. We have successfully applied this technique to investigate disease genes that cause cataract/microcornea, Peters anomaly and microphthalmia/coloboma. This work was accepted for publication in the European Journal of Human Genetics, and the technique is now being applied to patients with retinal dystrophies.
Another NGS approach utilised by the group is called ‘targeted NGS’. A new capture technique was devised to select the coding regions of more than 50 genes known to be critical in the lens and anterior segment of the eye. We applied this to patients with cataract and microcornea/microphthalmia, and preliminary results show it has a disease identification success rate similar to that of exome sequencing. This finding has potential to reduce the cost of diagnostic testing. We are collaborating with The Children’s Hospital at Westmead to translate findings into new and accessible diagnostic tests for patients with genetic eye disorders.
We have identified a number of novel candidate disease genes from exome sequencing and the investigation of patients with eye diseases and structural genomic variation.
Clinical investigation members
Patient Care Coordinator
Visual electrophysiology clinicians
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