• March 23, 2022

Breakthrough for genetic eye disease

New opportunities towards gene therapy and diagnosis for the blinding eye disease, retinal dystrophy, may now become available following work done by the Eye Genetics Research Unit at the Children’s Medical Research Institute.

The team looked at the RPGR gene which is involved in maintaining healthy photoreceptor cells. Variants in this gene are the main contributor to eye disease such as rod cone dystrophy and gene therapy for this condition is now in clinical trials.

The research, published in the Journal of Personalized Medicine, was partly supported by Luminesce Alliance funding.

The team worked closely with collaborators at the Department of Clinical Genetics and Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children’s Hospitals Network (SCHN), and the Rare Diseases Functional Genomics Laboratory, SCHN, and CMRI, and Save Sight Institute, Faculty of Medicine and Health, University of Sydney.


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