Investigating the pathogenic mechanisms of inherited retinal diseases: an in vitro- and CRISPR-based approach

Sang Yoon Moon

Research output: ThesisDoctoral Thesis

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Abstract

Inherited retinal diseases (IRDs) are a diverse group of genetic diseases that are the most common cause of blindness in children and working aged adults. However, gaps in our understanding of the pathogenic mechanisms of IRDs impede the application of these new technologies. Skin cells from patients with IRDs were reprogrammed into iPSCs and differentiated into retinal cells that harbour the patient’s genetic profile. The overall aim of this project was to develop new models and techniques for the investigation of IRDs, with a focus on two subtypes of retinitis pigmentosa.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • McLenachan, Sam, Supervisor
  • Chen, Fred, Supervisor
  • Mellough, Carla, Supervisor
Thesis sponsors
Award date24 Feb 2023
DOIs
Publication statusUnpublished - 2022

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