Episode 8: Fixing the Code for Inherited Retinal Diseases

How does Lego relate to Genetics? In our final episode of our Talking Retina series, we have a very interesting chat with Dr. Tom Edwards, head of the Gene Therapy Research unit at the Centre for Eye Research Australia about how gene therapy works, how it might look in people receiving treatment, and the process from research to clinical delivery. According to Dr. Tom, multiple gene therapies are expected to roll out over the next 5 to 10 years, so genetic testing and signing up to registers is more important now than ever.

Dr. Tom Edwards and A/Prof Lauren Ayton work closely with the Australian and global community on Inherited Retinal Diseases.

Research sites specialising in IRDs in Australia are:

• The VENTURE Registry is a collaboration between the Centre for Eye Research Australia and the University of Melbourne which collects both clinical and genetic information on people living with IRDs in Victoria. This registry also includes female carriers of X-linked IRDs.
• The Australian Inherited Retinal Disease Register and DNA Bank is Australia’s largest DNA ban collecting family history and genetic samples, but not comprehensive clinical data (which is captured by state-based registries – below). The AIRDR has proudly been funded by Retina Australia since its inception in 2009.
• The Save Sight Institute IRD Registry is based in NSW and led by an ophthalmologist (Prof Grigg) and geneticist (Prof Jamieson), collecting both clinical and genetic data on people living with IRDs.
• The Western Australia Retinal Disease (WARD) study is based at the Lions Eye Institute in Perth, collecting clinical and genetic information on people with IRDs. The Lead Investigator, A/Prof Fred Chen, is also the Head of the Ocular Tissue Engineering Laboratory at Lions, developing new treatments for IRDs.

Additional resources can be found at:

• Retina Australia

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