Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies
Open accessAbstract
Inherited retinal dystrophies (IRDs), such as retinitis pigmentosa and Stargardt disease, are a group of rare diseases caused by mutations in more than 300 genes that currently have no treatment in most cases. They commonly trigger blindness and other ocular affectations due to retinal cell degeneration. Gene editing has emerged as a promising and powerful strategy for the development of IRD therapies, allowing the permanent correction of pathogenic variants. Using clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 and transcription activator-like effector nucleases (TALEN) gene-editing tools, we precisely corrected seven hiPS cell lines derived from IRD patients carrying mutations in ABCA4 , BEST1 , PDE6A , PDE6C , RHO, or USH2A . Homozygous mutations and point insertions/deletions resulted in the highest homology-directed repair efficiencies, with at least half of the clones repaired properly without off-target effects. Strikingly, correction of a heterozygous pathogenic variant was achieved using the wild-type allele of the patient as the template for DNA repair. These results suggest the unexpected potential application of CRISPR as a donor template-free strategy for single-nucleotide modifications. Additionally, the corrected clones exhibited a reversion of the disease-associated phenotype in retinal cellular models. These data strengthen the study and application of gene editing-based approaches for IRD treatment.
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On-target defects were significantly lower than those obtained in hiPSCs, ranging from 2% to 14.29%, compared with nearly 40% reported in hiPSCs.
“Importantly, on-target defects were significantly lower than those obtained in hiPSCs, ranging from 2% to 14.29%, compared with nearly 40% reported in hiPSCs [36].”
From Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies (2026) · cites this paper as [36]
The Results section (page unavailable) reports on-target aberrations below 40% in all assays, which supports the claim's approximate hiPSC benchmark. It does not report a 2%–14.29% range or a statistically significant comparison with another group; the assays described were themselves conducted in hiPSCs. (LLM, conf=0.85)
Experimental — accuracy not yet measuredThe gene editing outcomes in Experiment A are consistent with previous reports in hiPSCs using the same sgRNA, which showed cleavage of both mutant and wild-type alleles.
“These results are consistent with previous reports in hiPSCs using the same sgRNA, which showed cleavage of both mutant and wild-type alleles [36].”
From Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies (2026) · cites this paper as [36]
The Results section (‘Precise HDR correction of pathogenic variants by using the endogenous sister chromatid’; page unavailable) reports editing consistent with cleavage of both mutant and wild-type alleles in hiPSCs, particularly with sgRNAs having one mismatch to the wild-type allele. The claim that the prior report used the same sgRNA as Experiment A cannot be verified from the supplied claim and our copy, which do not identify Experiment A’s guide. (LLM, conf=0.82)
Experimental — accuracy not yet measuredAll predicted off-target sites located within exonic regions or intronic regions in close proximity to exons were analyzed by Sanger sequencing.
“All predicted off-target sites located within exonic regions or intronic regions in close proximity to exons were analyzed by Sanger sequencing, following the same criteria as previously reported studies [36,40,41].”
From Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies (2026) · cites this paper as [36]
Cas9 sgRNAs and ssODNs were previously designed and validated.
“Cas9 sgRNAs and ssODNs were previously designed and validated (Thermo Fisher Scientific) [36].”
From Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies (2026) · cites this paper as [36]
In this study, several gene-edited clones exhibited cleavage of the wild-type allele followed by repair using the sister chromatid rather than the exogenous ssODN.
“In this study, several gene-edited clones exhibited cleavage the wild-type allele followed by repair using the sister chromatid rather than the exogenous ssODN, as reported previously [36].”
From Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies (2026) · cites this paper as [36]
Experiment A results indicate cleavage of the wild-type allele and its repair using either the sister chromatid or the ssODN.
“This new results on gene editing outcomes in Experiment A also indicated the cleavage of the wild-type allele and its repair using either the sister chromatid or the ssODN, as schematized in Figure 4E [36].”
From Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies (2026) · cites this paper as [36]
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Self-citation
Flagged first, then by citations
8 of the 117 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Current approaches for Usher syndrome disease models and developing therapies
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Dissecting PDE6-Associated Inherited Retinal Dystrophies Using Patient-Derived Retinal Models
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Self-citationStargardt disease: progress, enigmas, and prospects for therapeutic intervention
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Siles, L., Ruiz-Nogales, S., Méndez-Vendrell, P., & Pomares, E. (2026) · Cells · doi:10.3390/cells15050457
“In this study, several gene-edited clones exhibited cleavage the wild-type allele followed by repair using the sister chromatid rather than the exogenous ssODN, as reported previously [36].”
InfluentialSelf-citation
- Authors
- Siles, L., & Pomares, E.
- Affiliations
- Instituto de Microcirugía Ocular (ES)
- Corresponding author
- Pomares, Esther
- ORCID
- Pomares, Esther
- Venue
- Molecular Therapy Nucleic Acids
- Publisher
- Elsevier BV
- Published
- 2025-03
- Volume
- 36
- Issue
- 1
- Pages
- 102482
- ISSN
- 2162-2531 (ISSN-L)
- PMC
- PMC11903799
- OpenAlex
- W4407380873
- Cited by
- 4
- References
- 117
- Citations by year
- 2026: 3 · 2025: 1
- FWCI
- 1.20
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Molecular Therapy — Nucleic Acids (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- 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
- inherited retinal disease, CRISPR/Cas9 genome editing, induced pluripotent stem cells, retinitis pigmentosa, Stargardt disease, ABCA4, BEST1, PDE6A, PDE6C, Rho, USH2A, homology-directed repair, heterozygous pathogenic variant, retinal degeneration, gene therapy
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