Prime Editing for Inherited Retinal Diseases

Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a genetic mutation—inherited or de novo—with a majority of IRDs resulting from point mutations. Given the plethora of IRDs, to date, mutations tha...

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Autores principales:	Bruna Lopes da Costa, Sarah R. Levi, Eric Eulau, Yi-Ting Tsai, Peter M. J. Quinn
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Ophthalmology prime editing inherited retinal diseases (IRD) gene editing retinal degeneration adeno-associated viral (AAV) vectors Biotechnology TP248.13-248.65 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/42ebe1f21ae24412b673bd12851f342f
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id	oai:doaj.org-article:42ebe1f21ae24412b673bd12851f342f
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spelling	oai:doaj.org-article:42ebe1f21ae24412b673bd12851f342f2021-12-01T01:39:21ZPrime Editing for Inherited Retinal Diseases2673-343910.3389/fgeed.2021.775330https://doaj.org/article/42ebe1f21ae24412b673bd12851f342f2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgeed.2021.775330/fullhttps://doaj.org/toc/2673-3439Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a genetic mutation—inherited or de novo—with a majority of IRDs resulting from point mutations. Given the plethora of IRDs, to date, mutations that cause these dystrophies have been found in approximately 280 genes. However, there is currently only one FDA-approved gene augmentation therapy, Luxturna (voretigene neparvovec-rzyl), available to patients with RPE65-mediated retinitis pigmentosa (RP). Although clinical trials for other genes are underway, these techniques typically involve gene augmentation rather than genome surgery. While gene augmentation therapy delivers a healthy copy of DNA to the cells of the retina, genome surgery uses clustered regularly interspaced short palindromic repeats (CRISPR)-based technology to correct a specific genetic mutation within the endogenous genome sequence. A new technique known as prime editing (PE) applies a CRISPR-based technology that possesses the potential to correct all twelve possible transition and transversion mutations as well as small insertions and deletions. EDIT-101, a CRISPR-based therapy that is currently in clinical trials, uses double-strand breaks and nonhomologous end joining to remove the IVS26 mutation in the CEP290 gene. Preferably, PE does not cause double-strand breaks nor does it require any donor DNA repair template, highlighting its unparalleled efficiency. Instead, PE uses reverse transcriptase and Cas9 nickase to repair mutations in the genome. While this technique is still developing, with several challenges yet to be addressed, it offers promising implications for the future of IRD treatment.Bruna Lopes da CostaBruna Lopes da CostaSarah R. LeviEric EulauYi-Ting TsaiYi-Ting TsaiPeter M. J. QuinnFrontiers Media S.A.articleOphthalmologyprime editinginherited retinal diseases (IRD)gene editingretinal degenerationadeno-associated viral (AAV) vectorsBiotechnologyTP248.13-248.65GeneticsQH426-470ENFrontiers in Genome Editing, Vol 3 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology prime editing inherited retinal diseases (IRD) gene editing retinal degeneration adeno-associated viral (AAV) vectors Biotechnology TP248.13-248.65 Genetics QH426-470
spellingShingle	Ophthalmology prime editing inherited retinal diseases (IRD) gene editing retinal degeneration adeno-associated viral (AAV) vectors Biotechnology TP248.13-248.65 Genetics QH426-470 Bruna Lopes da Costa Bruna Lopes da Costa Sarah R. Levi Eric Eulau Yi-Ting Tsai Yi-Ting Tsai Peter M. J. Quinn Prime Editing for Inherited Retinal Diseases
description	Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a genetic mutation—inherited or de novo—with a majority of IRDs resulting from point mutations. Given the plethora of IRDs, to date, mutations that cause these dystrophies have been found in approximately 280 genes. However, there is currently only one FDA-approved gene augmentation therapy, Luxturna (voretigene neparvovec-rzyl), available to patients with RPE65-mediated retinitis pigmentosa (RP). Although clinical trials for other genes are underway, these techniques typically involve gene augmentation rather than genome surgery. While gene augmentation therapy delivers a healthy copy of DNA to the cells of the retina, genome surgery uses clustered regularly interspaced short palindromic repeats (CRISPR)-based technology to correct a specific genetic mutation within the endogenous genome sequence. A new technique known as prime editing (PE) applies a CRISPR-based technology that possesses the potential to correct all twelve possible transition and transversion mutations as well as small insertions and deletions. EDIT-101, a CRISPR-based therapy that is currently in clinical trials, uses double-strand breaks and nonhomologous end joining to remove the IVS26 mutation in the CEP290 gene. Preferably, PE does not cause double-strand breaks nor does it require any donor DNA repair template, highlighting its unparalleled efficiency. Instead, PE uses reverse transcriptase and Cas9 nickase to repair mutations in the genome. While this technique is still developing, with several challenges yet to be addressed, it offers promising implications for the future of IRD treatment.
format	article
author	Bruna Lopes da Costa Bruna Lopes da Costa Sarah R. Levi Eric Eulau Yi-Ting Tsai Yi-Ting Tsai Peter M. J. Quinn
author_facet	Bruna Lopes da Costa Bruna Lopes da Costa Sarah R. Levi Eric Eulau Yi-Ting Tsai Yi-Ting Tsai Peter M. J. Quinn
author_sort	Bruna Lopes da Costa
title	Prime Editing for Inherited Retinal Diseases
title_short	Prime Editing for Inherited Retinal Diseases
title_full	Prime Editing for Inherited Retinal Diseases
title_fullStr	Prime Editing for Inherited Retinal Diseases
title_full_unstemmed	Prime Editing for Inherited Retinal Diseases
title_sort	prime editing for inherited retinal diseases
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/42ebe1f21ae24412b673bd12851f342f
work_keys_str_mv	AT brunalopesdacosta primeeditingforinheritedretinaldiseases AT brunalopesdacosta primeeditingforinheritedretinaldiseases AT sarahrlevi primeeditingforinheritedretinaldiseases AT ericeulau primeeditingforinheritedretinaldiseases AT yitingtsai primeeditingforinheritedretinaldiseases AT yitingtsai primeeditingforinheritedretinaldiseases AT petermjquinn primeeditingforinheritedretinaldiseases
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Prime Editing for Inherited Retinal Diseases

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