Precision medicine addressing a novel disease pathway to preserve sight in the retinal dystrophies
Inherited retinal dystrophies (IRDS) affect approximately 1 in 1,000 people and lead to progressive visual loss. This project modelled systems of IRD that are due to mutations in one of the more common autosomal recessive IRD disease genes, the rod-specific phosphodiesterase gene (PDE6B).
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Exploration and modulation of this previously uncharacterised pathway in the eye, providing exciting innovation towards a new therapy approach in the retinal dystrophies, as well as being beneficial as an adjuvant therapy for cases that may have received a genetic therapy where there is still ongoing disease progression. The retinal organoid modelled systems that were created in this project, may also be beneficial in other conditions such as diabetic retinopathy, inflammatory bowel disease, including malignancies where inflammatory responses may contribute to disease.
The project generated new knowledge with the results of this project used to provide proof-of-concept of a new therapeutic pathway for target in the retinal dystrophies. It has also led to capability building by providing unique model systems to test anticipated novel small molecule inhibitors of ALPK1.
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Lead Investigator
- Professor Robyn Jamieson
Head, Eye Genetics Research Unit Sydney Children’s Hospitals Network & University of Sydney
Research Team
- Dr Anai Gonzalez Cordero, Head, Stem Cell Medicine Group, Children’s Medical Research Institute
- Professor John Grigg, Sydney Eye Hospital & University of Sydney
- Associate Professor Greg Arndt, Head of Drug Discovery, THerapeutic INnovations for Kids (THINK), Children’s Cancer Institute
- Professor Robyn Jamieson