Catherine Argyriou, PhD, discusses peroxisome disease and the development of a retinal gene therapy for PEX1-mediated Zellweger Spectrum Disorder.
This webinar provides background on peroxisomal disorders and the PEX1-G844D mouse model for mild Zellweger Spectrum Disorder, which presents with retinal degeneration and vision loss. Dr. Argyriou describes how her team used AAV8-mediated gene delivery to robustly and durably improve functional vision, retinal response, retinal structure, and biochemical metabolites in ZSD mice. Techniques used include subretinal injection, ERG, optomotor testing, histology, immunohistochemistry, and LC-MSMS. AAV vector design and validation are also discussed. This work attracted venture capital investment and is now ready to enter the clinical translation phase.
Key Topics Include:
- Introduction to peroxisome disease and the PEX1-G844D mouse model
- Application of PEX1 gene augmentation to improve retinal structure and function in transgenic mice
- Preclinical steps in retinal gene therapy development for rare disease