Finding cures for children's genetic diseases

Research

Eye Genetics Research Unit

The Eye Genetics Unit, led by Professor Robyn Jamieson, is focused on genomic, stem cell and genetic therapy applications for maximization of the genetic diagnostic rate and new therapies for blinding genetic eye diseases. In our research studies, we investigate patient-derived human induced pluripotent stem cells differentiated to retinal organoids, to determine underlying disease mechanisms and test new genetic therapies. We use CRISPR/Cas9 gene editing to introduce or correct mutations, as well as AAV-mediated genetic therapy strategies. Transcriptomic and proteomic investigations are undertaken to determine the underlying disease mechanisms and to inform development of new gene and pharmacological therapy approaches.   

“Genetic eye conditions, such as inherited retinal diseases, were difficult to genetically diagnose and considered untreatable for many years. Excitingly, our genomic research studies have successfully led to genetic diagnoses and understanding of disease mechanisms. Our new frontier is development of novel genetic therapies to rescue vision in these disorders.” - Robyn Jamieson
 

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