Eye genetics and inherited retinal diseases

About us

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.

Study with us

Current research projects available to prospective postgraduate students include:

Biomarkers for inherited retinal disease monitoring
Genotype phenotype correlations for Inherited retinal disease in preparation for treatment trials
Virtual reality mobility assessment in inherited retinal diseases

For more information on these research opportunities, please submit an expression of interest.

What are the issues?

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.

Research highlights

Our team applies exome sequencing, targeted NGS as well as whole genome sequencing to investigate various disease genes in patients.

Novel gene discovery

We have discovered that the identified gene ALPK1 results in retinal inflammatory features and degeneration. The rigorous genotype -phenotype was an integral component leading to the gene identification and provides a foundation for investigating new disease mechanisms. Further information on this study can be in this article published in the Nature Research Journal.
We detailed phenotypic assessment in humans and animal models with correlation to genomic data to identify and characterise a new gene involved in lens and anterior segment development in a study published in 2015.

Cataract anterior segment and glaucoma

Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. We demonstrated the value of a combined analysis protocol using phenotypic and genomic approaches (chromosome microarray, exome sequencing, and genome sequencing with structural variant and trio analysis) to achieve a genetic conclusion. Find out more in this article published in the Nature Research Journal.
In a 2019 study, we combined the groups expertise in genomics and phenotype delineation in ocular anterior segment anomalies. The outcome was a guide towards genetic diagnosis for clinicians investigating patients with anterior segment dysgenesis.
We identified new phenotypic associations with the gene GJA8 thus expanding the conditions it is associated with. Find out more about the novel mutations in our 2018 article.
This 2016 study reported on the largest cohort of congenital cataracts to date. The genomic systems approach developed by the research team enabled the high detection rate. This contributed to the translation of genetic eye testing to NATA accredited clinical testing
This 2015 article published in the American Journal of Ophthalmology was the largest report on outcome in primary congenital glaucoma at the time of publication. This provided real world outcomes to inform clinical practice.

Retinal and macular disorders

This 2018 study published in the European Journal of Human Genetics identified a new retinal disease genotype-phenotype association. Ophthalmic phenotypic analysis was particularly relevant in the course of this study.
This research published in 2020 identified clinical biomarkers for monitoring outcomes in patients with Usher syndrome. This included both structural changes (OCT and Ultra-wide autofluorescence and functional parameters including visual acuity and electrophysiology. . These parameters could represent reliable biomarkers in therapeutic clinical trials on Usher syndrome.