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

Sang Yoon Moon

doi:10.26182/2ecn-k615

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

Sang Yoon Moon

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

Research output: Thesis › Doctoral 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 language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	McLenachan, Sam, Supervisor Chen, Fred, Supervisor Mellough, Carla, Supervisor
Thesis sponsors	Australian Government Research Training Program
Award date	24 Feb 2023
DOIs	https://doi.org/10.26182/2ecn-k615
Publication status	Unpublished - 2022

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10.26182/2ecn-k615

THESIS - DOCTOR OF PHILOSOPHY - MOON Sang Yoon - 2023
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2 Article

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1
Moon, S. Y., Zhang, D., Chen, S. C., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Chen, F. K. & McLenachan, S., Jul 2021, In: Stem Cell Research. 54, 102403.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Citation (Scopus)
Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation
Zhang, X., Moon, S. Y., Zhang, D., Chen, S. C., Lamey, T., Thompson, J. A., McLaren, T., De Roach, J. N., McLenachan, S. & Chen, F. K., 1 May 2019, In: Stem Cell Research. 37, 101452.
Research output: Contribution to journal › Article › peer-review

Open Access

Cite this

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

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{\textquoteright}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.",

keywords = "Retina, CRISPR, Stem cells, Retinal organoids",

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school = "The University of Western Australia",

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PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - Retina

KW - CRISPR

KW - Stem cells

KW - Retinal organoids

U2 - 10.26182/2ecn-k615

DO - 10.26182/2ecn-k615

M3 - Doctoral Thesis

ER -

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

Abstract

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Research output

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

Cite this