Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque
Open accessAbstract
Mutations in GUCY2D , the gene encoding retinal guanylate cyclase-1 (retGC1), are the leading cause of autosomal dominant cone–rod dystrophy (CORD6). Significant progress toward clinical application of gene replacement therapy for Leber congenital amaurosis (LCA) due to recessive mutations in GUCY2D (LCA1) has been made, but a different approach is needed to treat CORD6 where gain of function mutations cause dysfunction and dystrophy. The CRISPR/Cas9 gene editing system efficiently disrupts genes at desired loci, enabling complete gene knockout or homology directed repair. Here, adeno-associated virus (AAV)-delivered CRISPR/Cas9 was used specifically to edit/disrupt this gene's early coding sequence in mouse and macaque photoreceptors in vivo , thereby knocking out retGC1 expression and demonstrably altering retinal function and structure. Neither preexisting nor induced Cas9-specific T-cell responses resulted in ocular inflammation in macaques, nor did it limit GUCY2D editing. The results show, for the first time, the ability to perform somatic gene editing in primates using AAV-CRISPR/Cas9 and demonstrate the viability this approach for treating inherited retinal diseases in general and CORD6 in particular.
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Packaging CRISPR gRNA and Cas9 in AAV and delivering it subretinally can specifically disrupt a disease-causing allele in photoreceptors or RPE.
“By packaging the CRISPR gRNA and Cas9 enzyme-encoding transgene within AAV and delivering the gene editing vector into the subretinal space, it is possible to specifically disrupt the disease-causing allele in the photoreceptors or RPE [Suzuki 2016; Yu 2017; McCullough 2019].”
From Correcting visual loss by genetics and prosthetics (2020) · cites this paper as McCullough 2019
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- Authors
- McCullough, K. T., Boye, S. L., Fajardo, D., Calabro, K., Peterson, J. J., Strang, C. E., Chakraborty, D., Gloskowski, S., Haskett, S., Samuelsson, S., Jiang, H., Witherspoon, C. D., Gamlin, P. D., Maeder, M. L., & Boye, S. E.
- Affiliations
- University of Florida Health (US)
- Department of Ophthalmology, University of Florida, Gainesville, Florida
- University of Alabama at Birmingham (US)
- Editas Medicine (United States) (US)
- ORCID
- Venue
- Human Gene Therapy
- Publisher
- SAGE Publications
- Published
- 2019-05
- Volume
- 30
- Issue
- 5
- Pages
- 571-589
- ISSN
- 1043-0342 (ISSN-L)
- 1557-7422
- PMC
- PMC6534089
- OpenAlex
- W2898172161
- Cited by
- 79
- References
- 66
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 8 · 2023: 12 · 2022: 14 · 2021: 20 · 2020: 15 · 2019: 3
- FWCI
- 3.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Human Gene Therapy (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Eye Institute (R01EY024280, P30EY003039, T32EY007132, R01EY025555)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Keywords
- GUCY2D, CRISPR/Cas9 genome editing, AAV gene therapy, somatic gene editing, photoreceptors, inherited retinal disease, T cell response, ocular inflammation, macaque, mice
- MeSH terms
- Gene Editing, RNA, Guide, CRISPR-Cas Systems, Dependovirus, Animals, Base Sequence, Electroretinography, Genetic Vectors, Guanylate Cyclase, Macaca, Promoter Regions, Genetic, Receptors, Cell Surface, Retina, RNA, Guide, Kinetoplastida, Genes, Reporter, Mice, Knockout, Mice, Molecular Imaging, CRISPR-Cas Systems
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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