Disease mechanisms of recessive inherited retinitis pigmentosa due to CLN3 and CRB1 mutations

Xiao Zhang

Research output: ThesisDoctoral Thesis

216 Downloads (Pure)

Abstract

Retinitis pigmentosa (RP) is an inherited retinal disease that remains incurable at present. In this study, we aimed to generate and characterize induced pluripotent stem cell (iPSC) lines from RP patients with CLN3 and CRB1 disease. The effect of specific variants on gene expression was also investigated in iPSC-derived retinal organoids. The results demonstrate the establishment of a disease-modelling pipeline for elucidating the molecular mechanisms of inherited retinal diseases and providing novel insights into the pathogenesis of human genetic variants associated with RP. This pipeline provides an ideal platform for the screening of pharmacological agents for the treatment of RP.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Chen, Fred, Supervisor
  • Dilley, Rodney, Supervisor
  • Mackey, David, Supervisor
  • McLenachan, Sam, Supervisor
Thesis sponsors
Award date26 Aug 2020
DOIs
Publication statusUnpublished - 2020

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