Disease modelling and treatment development for RCBTB1-associated retinopathy

Eva Huang

doi:10.26182/hp1b-ss63

Disease modelling and treatment development for RCBTB1-associated retinopathy

Eva Huang

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Thesis › Doctoral Thesis

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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 language	English
Qualification	Doctor 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	Australian Government Research Training Program
Award date	22 Dec 2022
DOIs	https://doi.org/10.26182/hp1b-ss63
Publication status	Unpublished - 2022

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10.26182/hp1b-ss63

THESIS - DOCTOR OF PHILOSOPHY - HUANG, Eva - 2022
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Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy
Huang, Z., Zhang, D., Thompson, J. A., Jamuar, S. S., Roshandel, D., Jennings, L., Mellough, C., Charng, J., Chen, S. C., McLaren, T. L., Lamey, T. M., Chelva, E., De Roach, J. N., Chan, C. M., McLenachan, S. & Chen, F. K., 2021, In: Ophthalmic Genetics. 42, 3, p. 266-275 10 p.
Research output: Contribution to journal › Article › peer-review
10 Link opens in a new tab Citations (Scopus)
Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium
Huang, Z., Zhang, D., Chen, S. C., Jennings, L., Carvalho, L. S., Fletcher, S., Chen, F. K. & McLenachan, S., Nov 2021, In: Journal of Cellular and Molecular Medicine. 25, 21, p. 10020-10027 8 p.
Research output: Contribution to journal › Article › peer-review

Open Access
7 Link opens in a new tab Citations (Scopus)
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
Huang, Z., Zhang, D., Chen, S. C., Thompson, J. A., McLaren, T., Lamey, T., De Roach, J. N., McLenachan, S. & Chen, F. K., 1 Oct 2019, In: Stem Cell Research. 40, 101549.
Research output: Contribution to journal › Article › peer-review

Open Access
7 Link opens in a new tab Citations (Scopus)

Cite this

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title = "Disease modelling and treatment development for RCBTB1-associated retinopathy",

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.",

keywords = "RCBTB1, iPSC, RPE, AAV therapy, oxidative stress",

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year = "2022",

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language = "English",

school = "The University of Western Australia",

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N2 - 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.

AB - 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.

KW - RCBTB1

KW - iPSC

KW - RPE

KW - AAV therapy

KW - oxidative stress

U2 - 10.26182/hp1b-ss63

DO - 10.26182/hp1b-ss63

M3 - Doctoral Thesis

ER -

Disease modelling and treatment development for RCBTB1-associated retinopathy

Abstract

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Research output

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy

Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

Cite this