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
- Categories: Genetics & Genomics, Neuroscience, Vision Research
- Tags: gene therapy, retinal degeneration, rodent model
Resources
Presenters
Catherine Argyriou, PhD
Postdoctoral Fellow
Human Genetics
McGill University
Catherine’s research centers on developing drugs and gene therapies for rare disease, with a focus on retinal gene therapy to improve vision in peroxisome disorders (PBD-ZSD). She has extensive experience forming and maintaining academic and industrial collaborations, coordinating multiple project arms, directly supervising and training students/employees, and fostering relationships with patient networks.
Webinar Host
Striatech
Striatech is a young biotech company that spun off from the University of Tübingen, Germany, at the beginning of 2018. The founders – a team of neurobiologists – are all experienced vision researchers and have made it their common goal to make innovative ideas and products from vision and behavioral research accessible to scientists worldwide.
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