StriatechJournal Club

Developing Retinal Gene Therapy for Zellweger Spectrum Disorder (ZSD)

Catherine Argyriou, PhD - McGill University, Dept of Human Genetics
Gene transfer into retina

Live date was Jan 25th, 2023

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The presentation will provide background on peroxisomal disorders and the PEX1-G844D mouse model for mild Zellweger Spectrum Disorder, which presents with retinal degeneration and vision loss. The presenter will describe 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 will also be discussed. This work attracted venture capital investment and is now ready to enter the clinical translation phase.

Key Topics

  • 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

Learning Objectives

Participants will learn about peroxisome disease and how a mouse model was used to develop a retinal gene therapy to improve vision for PEX1-mediated Zellweger Spectrum Disorder.

Background Reading

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder. Argyriou C et al.
Mol Ther Methods Clin Dev. 2021 Sep 7;23:225-240.
doi: 10.1016/j.omtm.2021.09.002.

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. Argyriou C et al.
Exp Eye Res. 2019 Sep;186:107713.doi: 10.1016/j.exer.2019.107713.


Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward. Bennett J.
Mol Ther 2017 May 3;25(5):1076-1094.
doi: 10.1016/j.ymthe.2017.03.008.

About the speaker

Catherine Argyriou, PhD

Catherine Argyriou, PhD

Postdoctoral Fellow
McGill University, Dept of Human Genetics

Logo of the 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.

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