Developing a common treatment for cone-mediated vision loss in inherited retinal diseases

Alicia Brunet

doi:10.26182/nmh7-mq84

Developing a common treatment for cone-mediated vision loss in inherited retinal diseases

Alicia Brunet

Research output: Thesis › Doctoral Thesis

119 Downloads (Pure)

Abstract

Loss of cones has the highest impact on the quality of life for people living with inherited retinal diseases (IRDs). Using mouse models of IRDs, this research aimed to unravel the pathophysiological mechanisms involved with primary (achromatopsia) and secondary cone degeneration (retinitispigmentosa) to identify a common gene-independent novel treatment for cone-mediated vision loss. Using single-cell RNAseq, dysregulation of the mTOR pathway was implicated in early mechanisms of cone degeneration. Early treatment administration that targets the mTORC2 pathway in autosomal recessive IRD mouse models attenuated photoreceptor degeneration. The therapeutic benefits of TOR-related treatments may provide hope for IRD patients.

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	dos Santos Carvalho, Livia, Supervisor Mellough, Carla, Supervisor Harvey, Alan, Supervisor Hunt, David, Supervisor
Thesis sponsors	Australian Government Research Training Program
Award date	4 Nov 2024
DOIs	https://doi.org/10.26182/nmh7-mq84
Publication status	Unpublished - 2024

Access to Document

10.26182/nmh7-mq84

THESIS - DOCTOR OF PHILOSOPHY - BRUNET Alicia Alana - 2024_
This work is protected by Copyright. You may print or download ONE copy of this document for the purpose of your own non-commercial research or study. Any other use requires permission from the copyright owner. The Copyright Act requires you to attribute any copyright works you quote or paraphrase.

1 Review article

Primary and Secondary Cone Cell Death Mechanisms in Inherited Retinal Diseases and Potential Treatment Options
Brunet, A. A., Harvey, A. R. & Carvalho, L. S., 1 Jan 2022, In: International Journal of Molecular Sciences. 23, 2, 726.
Research output: Contribution to journal › Review article › peer-review

Open Access
10 Citations (Scopus)

Cite this

@phdthesis{6ebc1760ddce4a2892d46fe099871c14,

title = "Developing a common treatment for cone-mediated vision loss in inherited retinal diseases",

abstract = "Loss of cones has the highest impact on the quality of life for people living with inherited retinal diseases (IRDs). Using mouse models of IRDs, this research aimed to unravel the pathophysiological mechanisms involved with primary (achromatopsia) and secondary cone degeneration (retinitispigmentosa) to identify a common gene-independent novel treatment for cone-mediated vision loss. Using single-cell RNAseq, dysregulation of the mTOR pathway was implicated in early mechanisms of cone degeneration. Early treatment administration that targets the mTORC2 pathway in autosomal recessive IRD mouse models attenuated photoreceptor degeneration. The therapeutic benefits of TOR-related treatments may provide hope for IRD patients.",

keywords = "Inherited retinal disease, vision, cone photoreceptors, cone degeneration, neurodegeneration, achromatopsia, retinitis pigmentosa",

author = "Alicia Brunet",

year = "2024",

doi = "10.26182/nmh7-mq84",

language = "English",

school = "The University of Western Australia",

}

TY - BOOK

T1 - Developing a common treatment for cone-mediated vision loss in inherited retinal diseases

AU - Brunet, Alicia

PY - 2024

Y1 - 2024

N2 - Loss of cones has the highest impact on the quality of life for people living with inherited retinal diseases (IRDs). Using mouse models of IRDs, this research aimed to unravel the pathophysiological mechanisms involved with primary (achromatopsia) and secondary cone degeneration (retinitispigmentosa) to identify a common gene-independent novel treatment for cone-mediated vision loss. Using single-cell RNAseq, dysregulation of the mTOR pathway was implicated in early mechanisms of cone degeneration. Early treatment administration that targets the mTORC2 pathway in autosomal recessive IRD mouse models attenuated photoreceptor degeneration. The therapeutic benefits of TOR-related treatments may provide hope for IRD patients.

AB - Loss of cones has the highest impact on the quality of life for people living with inherited retinal diseases (IRDs). Using mouse models of IRDs, this research aimed to unravel the pathophysiological mechanisms involved with primary (achromatopsia) and secondary cone degeneration (retinitispigmentosa) to identify a common gene-independent novel treatment for cone-mediated vision loss. Using single-cell RNAseq, dysregulation of the mTOR pathway was implicated in early mechanisms of cone degeneration. Early treatment administration that targets the mTORC2 pathway in autosomal recessive IRD mouse models attenuated photoreceptor degeneration. The therapeutic benefits of TOR-related treatments may provide hope for IRD patients.

KW - Inherited retinal disease

KW - vision

KW - cone photoreceptors

KW - cone degeneration

KW - neurodegeneration

KW - achromatopsia

KW - retinitis pigmentosa

U2 - 10.26182/nmh7-mq84

DO - 10.26182/nmh7-mq84

M3 - Doctoral Thesis

ER -

Developing a common treatment for cone-mediated vision loss in inherited retinal diseases

Abstract

Access to Document

Fingerprint

Research output

Primary and Secondary Cone Cell Death Mechanisms in Inherited Retinal Diseases and Potential Treatment Options

Cite this