Disease modelling and treatment development for RCBTB1-associated retinopathy

Eva Huang

Research output: ThesisDoctoral Thesis

29 Downloads (Pure)

Abstract

Mutations in the RCBTB1 gene lead to a spectrum of inherited retinal diseases presenting with various phenotypic features including early-onset retinitis pigmentosa, progressive late-onset macular chorioretinal atrophy and peripheral retinal abnormalities. However, questions regarding primary retinal pathology, cellular disease mechanism and potential treatment strategies for RCBTB1-associated retinopathy remain unanswered. The increasing frequency of RCBTB1-associatedretinopathy case reports highlights the urgency and importance of investigating the role RCBTB1 in the retina. In this project, retinal cellular models were established from a patient with RCBTB1-associated retinopathy and then used to investigate the pathological mechanism and develop gene replacement therapy for this disease.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • McLenachan, Sam, Supervisor
  • Chen, Fred, Supervisor
  • Mackey, David, Supervisor
  • Mellough, Carla, Supervisor
Thesis sponsors
Award date22 Dec 2022
DOIs
Publication statusUnpublished - 2022

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