Eye Genetics Research Unit

Eye Genetics Research Unit

This page is a research page on Kids Research. Also see the Children’s Medical Research Institute’s (CMRI) website.

CMRI page

The Eye Genetics Research Unit is an integrated research group under the Western Sydney Genetics Program based at The Children’s Hospital at Westmead. Our research is a joint initiative of the Sydney Children’s Hospitals Network, Children’s Medical Research Institute and Save Sight Institute, University of Sydney. We value the translation of our research to clinical care, providing new therapies for children with blinding eye diseases.

Our research investigates the mechanisms and genetic variants behind genetic eye diseases and tests new therapies, such as gene replacement or gene editing therapy. We also commit to delivering novel therapies and clinical trials for genetic eye disease patients through the Ocular Gene and Cell Therapies Australia program. 


Our research aims to ultimately provide treatment for children with previously untreatable blinding eye disorders. We achieve this through the: 

  • Acceleration of functional genomic approaches for genetic variant interpretation and genetic therapy development in blinding ocular disorders. 
  • Investigation of novel gene replacement, gene editing and RNA approaches for novel genetic therapy development in the retinal dystrophies. 
  • Natural history studies of impact of genetic variants in the retina. 
  • Implementation science research to determine best approaches in genetic therapy delivery for ocular disorders. 


  • Our research has led to new genetic diagnoses for patients and families, as well as therapy and management options where none were previously available. 
  • The Ocular Gene and Cell Therapies Australia program is providing patients access to genomic diagnosis for genetic eye disorders. From this, we are able to create an extensive portfolio where we can conduct research that delivers advanced therapies and clinical trials to patients with blinding eye disorders.
  • We led the first national guidelines in Australia for management of Inherited Retinal Diseases (IRDs). 
  • Our research has demonstrated the significant economic and societal costs of blinding genetic eye conditions, reinforcing the need for further research into novel diagnostic and treatment for genetic ocular disorders.


Prof Robyn Jamieson

Prof Robyn Jamieson

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Last updated Monday 6th May 2024