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Gene Editing for CEP290 -Associated Retinal Degeneration
Open accessAbstract
Background CEP290 -associated inherited retinal degeneration causes severe early-onset vision loss due to pathogenic variants in CEP290 . EDIT-101 is a clustered regularly interspaced short palindromic repeats (CRISPR)–CRISPR-associated protein 9 (Cas9) gene-editing complex designed to treat inherited retinal degeneration caused by a specific damaging variant in intron 26 of CEP290 (IVS26 variant). Methods We performed a phase 1–2, open-label, single-ascending-dose study in which persons 3 years of age or older with CEP290 -associated inherited retinal degeneration caused by a homozygous or compound heterozygous IVS26 variant received a subretinal injection of EDIT-101 in the worse (study) eye. The primary outcome was safety, which included adverse events and dose-limiting toxic effects. Key secondary efficacy outcomes were the change from baseline in the best corrected visual acuity, the retinal sensitivity detected with the use of full-field stimulus testing (FST), the score on the Ora–Visual Navigation Challenge mobility test, and the vision-related quality-of-life score on the National Eye Institute Visual Function Questionnaire–25 (in adults) or the Children’s Visual Function Questionnaire (in children). Results EDIT-101 was injected in 12 adults 17 to 63 years of age (median, 37 years) at a low dose (in 2 participants), an intermediate dose (in 5), or a high dose (in 5) and in 2 children 9 and 14 years of age at the intermediate dose. At baseline, the median best corrected visual acuity in the study eye was 2.4 log 10 of the minimum angle of resolution (range, 3.9 to 0.6). No serious adverse events related to the treatment or procedure and no dose-limiting toxic effects were recorded. Six participants had a meaningful improvement from baseline in cone-mediated vision as assessed with the use of FST, of whom 5 had improvement in at least one other key secondary outcome. Nine participants (64%) had a meaningful improvement from baseline in the best corrected visual acuity, the sensitivity to red light as measured with FST, or the score on the mobility test. Six participants had a meaningful improvement from baseline in the vision-related quality-of-life score. Conclusions The safety profile and improvements in photoreceptor function after EDIT-101 treatment in this small phase 1–2 study support further research of in vivo CRISPR-Cas9 gene editing to treat inherited retinal degenerations due to the IVS26 variant of CEP290 and other genetic causes. (Funded by Editas Medicine and others; BRILLIANCE ClinicalTrials.gov number, NCT03872479 .)
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“The doses of AAV vectors that have been used in retinal gene therapy trials have ranged from ~1 × 10 8 (Heier et al., 2017) up to ~3 × 10 12 vg/eye (Yang et al., 2022; Pierce et al., 2024).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Pierce et al., 2024
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“In a groundbreaking first-in-human study, EDIT-101 (Editas, Cambridge, Massachusetts, USA), comprising an AAV5 vector encoding Staphylococcus aureus Cas9 and two guide RNAs targeting CEP290 associated with LCA, was well tolerated at relatively high vector doses (Pierce et al., 2024).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Pierce et al., 2024
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“In humans, EDIT-101 has demonstrated a positive safety profile and variable effectiveness of visual functional outcomes (retinal sensitivity, visual acuity, Ora–Visual Navigation Challenge) in Phase 1/2 of a small cohort of 14 participants ( NCT03872479 ), 64 which is ongoing with a larger cohort (34 participants) to confirm efficacy ( Table 1 ).”
From Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches (2025) · cites this paper as [64]
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Citations
Cites
Development of the 25-list-item National Eye Institute Visual Function Questionnaire
Mangione, C. M. (2001) · Archives of Ophthalmology · doi:10.1001/archopht.119.7.1050 · Cited by 2,230
Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis
Bainbridge, J. W. B., Mehat, M. S., Sundaram, V., Robbie, S. J., Barker, S. E., Ripamonti, C., Georgiadis, A., Mowat, F. M., Beattie, S. G., Gardner, P. J., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1414221 · Cited by 743
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10
Maeder, M. L., Stefanidakis, M., Wilson, C. J., Baral, R., Barrera, L. A., Bounoutas, G. S., Bumcrot, D., Chao, H., Ciulla, D. M., DaSilva, J. A., et al. (2019) · Nature Medicine · doi:10.1038/s41591-018-0327-9 · Cited by 707
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
den Hollander, A. I., Koenekoop, R. K., Yzer, S., López, I., Arends, M. L., Voesenek, K., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507318 · Cited by 669
Bennett, J., Wellman, J., Marshall, K. A., McCague, S., Ashtari, M., DiStefano-Pappas, J., Elci, O. U., Chung, D. C., Sun, J., Wright, J. F., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)30371-3 · Cited by 461
Self-citationWorldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Hanany, M., Rivolta, C., & Sharon, D. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1913179117 · Cited by 408
Cehajic-Kapetanovic, J., Xue, K., Martinez-Fernandez de la Camara, C., Nanda, A., Davies, A., Wood, L. J., Salvetti, A. P., Fischer, M. D., Aylward, J. W., Barnard, A. R., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-0763-1 · Cited by 368
Self-citationParfitt, D. A., Lane, A., Ramsden, C. M., Carr, A. F., Munro, P., Jovanovic, K., Schwarz, N., Kanuga, N., Muthiah, M. N., Hull, S., et al. (2016) · Cell stem cell · doi:10.1016/j.stem.2016.03.021 · Cited by 314
Report from the NEI/FDA Ophthalmic Clinical Trial Design and Endpoints Symposium *
Csaky, K. G., Richman, E. A., & Ferris, F. L. (2008) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.07-1132 · Cited by 265
Clinical Characteristics and Current Therapies for Inherited Retinal DegenerationsPreprint
Sahel, J., Marazova, K., & Audo, I. S. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a017111 · Cited by 249
Flagged first, then by citations
Research works printed but not linked: 1
- Pierce EA Ashimatey BS Jayasundera T et al. Twelve-month natural history study of CEP290-associated retinal degeneration. Ophthalmol Sci (in press) (https://www.ophthalmologyscience.org/article/S2666-9145(24)00019-8/pdf).
Cited by
Sorted by citations
Items 101–200 of 236
da Costa, B. L., Helms, K. M., Theodore, K., Tsai, Y., Caruso, S. M., Liu, S. J., de Carvalho, J. R. L., Nolan, N. D., Tahir, S., Makinson, C. D., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102740 · Cited by 3
Success in Sight for Gene Editing
Bainbridge, J. W. (2024) · New England Journal of Medicine · doi:10.1056/nejme2405256 · Cited by 3
Long term rescue of Alzheimer’s deficits in vivo by one-time gene-editing of App C-terminusPreprint
Aulston, B. D., Gimse, K., Bazick, H., Kramár, E. A., Pizzo, D. P., Shavarebi, F., Rust, T., Rosa, S. G., Parra‐Rivas, L. A., Sun, J., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.08.598099 · Cited by 4
Promising therapeutic targets for neuroprotection in retinal disease
Pan, W. W., Wubben, T. J., & Zacks, D. N. (2025) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000001123 · Cited by 3
Wang, W., Cai, K., Fan, M., Pang, Z., Pan, Y., Cheng, L., Qiao, L., Wang, R., Liu, W., & Liu, J. (2025) · BMC Genomics · doi:10.1186/s12864-025-11743-2 · Cited by 2
Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review
Pukl, S. S. (2025) · Genes · doi:10.3390/genes16101222 · Cited by 2
Shamsi, A., Alrouji, M., AlOmeir, O., Tasqeruddin, S., Khuzin, D., & Zuberi, A. (2025) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2025.1681891 · Cited by 2
Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST)
Cideciyan, A. V., Neuhauser, H., Román, A. J., & Alemán, T. S. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.13.46 · Cited by 2
Duarte, F. T., & Arsenijévic, Y. (2025) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2025.101424 · Cited by 2
Integrating synthetic biology to understand and engineer the heart, lung, blood, and sleep systems
Chaikof, E. L., Chen, J., Gillette, M. U., Boyer, L. A., Deans, T. L., Li, P., Hilton, I. B., Daniels, K. G., Goyal, Y., Mei, Y., et al. (2025) · Cell Systems · doi:10.1016/j.cels.2025.101446 · Cited by 2
Shi, M., Yu, P., Liu, L., Cheng, J., Shao, R., Sun, Y. Q., Lv, J., Li, Y., Zheng, Z., Yu, J. Y., et al. (2026) · Advanced Materials · doi:10.1002/adma.202511078 · Cited by 2
CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications
Rahmanian, M., Khoshandam, M., Mousazadeh, M., Yang, P., Soltaninejad, H., Dehkordi, P. K., Sadeghizadeh, M., Goudarzi, M. T. H., Azimi, A. H., & Sheykhhasan, M. (2026) · Human Gene Therapy · doi:10.1177/10430342251409714 · Cited by 2
Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data
Joskowicz, L., Buchbinder, T., Chodorov, E., Hoogi, A., Matos, K., Rivera, A., Sharon, D., Banin, E., & Levy, J. (2026) · PLoS ONE · doi:10.1371/journal.pone.0348866 · Cited by 2
Revisiting retinal and macular degeneration in the genomics era
Swaroop, A., & Roska, B. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-026-00960-4 · Cited by 2
Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives
Yang, M., Song, Y., Wang, Z., Chao, K., Li, L., Zhang, X., Duan, X., Yu, C., Xue, R., & Zhao, J. (2026) · MedComm · doi:10.1002/mco2.70791 · Cited by 3
Jia, H., Qian, B., Qu, Y., Wang, J., Chen, J. H., Li, T., Zheng, C., Han, J., Zhang, G., Jin, Y., et al. (2026) · Nature Medicine · doi:10.1038/s41591-026-04545-w · Cited by 2
Optogenetic Therapy for Restoring Aspects of Visual Function
Sahel, J.-A., Futterknecht, S., Audo, I., Martel, J. N., Ling, S., Pagot, C., Arleo, A., Boulanger-Scemama, É., Duret, A., Aubert, J.-B. D. S., et al. (2026) · New England Journal of Medicine · doi:10.1056/nejmoa2602215 · Cited by 3
Corneal endothelial dysfunction treatments: Recent advances in non-invasive treatment strategies
Gnyliukh, N., Boukherroub, R., & Szunerits, S. (2025) · Nano Today · doi:10.1016/j.nantod.2025.102740 · Cited by 3
Zhang, P., & Xu, Z. (2025) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2025.04.005 · Cited by 2
Legge, G. E. (2026) · doi:10.1093/9780198946960.001.0001 · Cited by 2
Thérapie génique in vivo : une approche modulaire
Jordan, B. (2024) · médecine/sciences · doi:10.1051/medsci/2024093 · Cited by 2
Efficient in vivo mammalian neuron editing using peptide-mediated CRISPR enzyme deliveryPreprint
Manohar, B. D., Travis, M., Munjal, V., Baehr, C. M., Rahnama, L. M. A., Kang, M. H., Haddad, R. F., Asija, K., Noel, E. A., Peddireddy, N., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.11.26.690638 · Cited by 2
Die Zukunft der Medizin: ein informierter Blick in die „Glaskugel“
Grgic, I. (2024) · DMW - Deutsche Medizinische Wochenschrift · doi:10.1055/a-2410-9532 · Cited by 1
Wang, C., Chen, L. R., Lin, T.-Y., & Huang, S. (2025) · Journal of Ophthalmology · doi:10.1155/joph/7014745 · Cited by 1
Farooqui, S. Z., Quinodoz, M., Tan, T., Tang, R. W. C., Chan, C. M., Mathur, R., Chen, L. Y., Poh, J. S. Z., Chia, A. W. L., Bylstra, Y. M., et al. (2025) · Ophthalmic Genetics · doi:10.1080/13816810.2025.2550693 · Cited by 1
Stemerdink, M., Malinar, L., Broekman, S., Peters, T. A., Ensink, I., Ivanchenko, M. V., Venselaar, H., Kremer, H., de Vrieze, E., & van Wijk, E. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102702 · Cited by 1
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight
Huang, Y.-S., Lu, W., Chiu, I.-H., Chien, P.-M., Chen, Y., Lin, C., Yang, C., Yang, C., Lin, C., Hsu, J. S., et al. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.13.12 · Cited by 1
Ramesh, B., & Fakoya, A. O. J. (2025) · Cureus · doi:10.7759/cureus.95908 · Cited by 2
van der Wilt, C. N., Veltrop, R. J. A., Janssens, M. H., Bakker, I. B. I., Stillitano, F., Sluijter, J. P. G., Laake, L. W. V., van der Velden, J., Villard, E., Montag, J., et al. (2025) · European Heart Journal Open · doi:10.1093/ehjopen/oeaf161 · Cited by 1
Advances in the treatment of blinding retinal diseases
Zhao, L., Jin, S., Xu, W., Zhang, M., & Liu, X. (2025) · International Ophthalmology · doi:10.1007/s10792-025-03876-w · Cited by 1
Measuring Vision in Children Undergoing Retinal Gene Therapy
Alemán, T. S., & Cideciyan, A. V. (2026) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2025.5657 · Cited by 1
Ren, Y., Xu, J., Luo, Q., Li, P., Jiang, M., Cheng, Y., Zhang, H., Wei, D., Bai, W., Liu, S., et al. (2026) · ACS Nano · doi:10.1021/acsnano.5c17709 · Cited by 1
Precision Is Not Enough: When Tools Outpace Translation in Ocular Gene Therapy
Elsayed, M. E. A. A., & MacLaren, R. E. (2026) · Genes · doi:10.3390/genes17030283 · Cited by 1
CRISPR in Thalassemia: Global Research Trend Analysis
Saboor, M., Alblooshi, M. J., Alkaabi, A. A., Soozaei, F. R., & Alketbi, M. H. (2026) · Hemoglobin · doi:10.1080/03630269.2026.2634815 · Cited by 1
Li, M., Li, S., Cao, Y. J., Sun, A., & Qu, J. (2026) · Journal of Clinical Medicine · doi:10.3390/jcm15052060 · Cited by 1
Jiang, D., Neo, D. J. H., Peh, G. S. L., Jin, P., Chen, W., & Mehta, J. S. (2026) · Redox Biology · doi:10.1016/j.redox.2026.104148 · Cited by 1
Tong, B., Song, Y., Li, Z., Cai, M., Qi, H., Su, K., & Xu, H. A. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-24-01599 · Cited by 1
Milenkovic, A., & Weber, B. H. F. (2026) · Genome Medicine · doi:10.1186/s13073-026-01649-3 · Cited by 1
Khare, G., Duong, A., Hanotaux, J., Shorr, R., Nampoothiri, R. V., Maganti, H. B., & Allan, D. (2026) · Cytotherapy · doi:10.1016/j.jcyt.2026.102898 · Cited by 1
From edits to Circuits: Nucleic acid therapeutics for Correcting human disease
Guinn, M. T., Sinenko, I., Ghanta, R. K., & Omid Veiseh, A. (2026) · Materials Today · doi:10.1016/j.mattod.2026.103351 · Cited by 1
Modalities of vision restoration in optic neuropathies and retinal disease
Rubin, B. R., Lavinsky, F., Cain, R., Kuriyan, A. E., Wollstein, G., Zambrano, R., & Schuman, J. S. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101474 · Cited by 1
Deep-sequencing-guided library screening and profiling of AAV capsids in the primate retina
Fouani, Y., Blazevic, D., Oti, M., Becker, R., Strobel, B., Schönberger, T., Stephan, M., Wichert, S., Reichel, F. F., Seitz, I. P., et al. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201764 · Cited by 1
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Jones, B. W. (2026) · Handbook of clinical neurology · doi:10.1016/b978-0-443-22212-2.00015-x · Cited by 2
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Chen, X., Yang, L., Wang, G., Liu, Y., Qu, G., Jiang, L., Liu, Y., & Li, X. (2026) · Ophthalmology Science · doi:10.1016/j.xops.2026.101269 · Cited by 1
Biomaterial-based ocular drug delivery: strategies, challenges, and future perspectives
Chen, Y., Yang, J., Zhou, K., Chen, Z., & Zhang, J. (2026) · Materials & Design · doi:10.1016/j.matdes.2026.116377 · Cited by 1
Precision gene editing: From proof-of-concept to curative therapies
Cui, T., Li, B., Cai, B., Wang, H., & Li, W. (2026) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2026.06.004 · Cited by 1
Latheef, A. K. A., Ali, M., Farahat, O., Gourari, F. M., Alqodsi, E. M., & Akawi, N. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2026.1859881 · Cited by 1
Inherited retinal degenerations: clinical phenotypes and emerging therapies
Uyhazi, K. E., O'Neil, E. C., Alemán, T. S., & Cideciyan, A. V. (2026) · The Lancet · doi:10.1016/s0140-6736(26)00766-x · Cited by 1
The landscape and trajectory of global CRISPR therapeutics
Şahin, C., Formica, T. M., Silva, A., Pelle, G. D., Davis, M. C., Andersen, D. G., Çavdar, M., Santos, L., Qiu, L., Olsen, A. L., et al. (2026) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2026.103011 · Cited by 1
Recent advances of CRISPR-based gene editing technologies and delivery strategies
Xue, F., Xin, Z., Wang, G., Xing, J., Han, H., Zhao, X., & Song, N. H. (2026) · Artificial Cells Nanomedicine and Biotechnology · doi:10.1080/21691401.2026.2702869 · Cited by 1
Engineering Microbial Strains and Enzymes for Enhanced Productivity
Ametefe, G. D., Oluyide, O. O., Itakorode, B. O., Muritala, I., Oyedara, O. O., & Ametefe, D. S. (2025) · Springer eBooks · doi:10.1007/978-981-96-2786-8_8 · Cited by 1
Zhao, G., Li, Z., Zhao, M., Li, S., Xia, Q., Xu, S., Zhang, Y., Wang, Y., Li, F., Liu, Y., et al. (2025) · Advanced Science · doi:10.1002/advs.202415856 · Cited by 3
de Malglaive, F., Barny, I., Revy, S., Obringer, C., Menguy, L., Machroub, S., Fares‐Taie, L., Cano, E., Goudin, N., Viau, A., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-8000675/v1 · Cited by 1
Pulman, J., Ren, D., Visticot, L., Malki, H., Yao, Y., Cian, A. D., Ail, D., Concordet, J., Dalkara, D., & Fisson, S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2025.12.11.693665 · Cited by 1
Zhang, T., Guo, A., Wang, H., Chen, Y., Li, L., & Wu, X. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2025.12.23.696180 · Cited by 1
Novel mouse reporter models for the detection of genome editing events in vivoPreprint
Snow, K. J., Saville, E., Heffner, C. S., Gaitan, Y., Duryea, J., Leidy-Davis, T., Bechtel, L. J., Hannigan, S., Low, B. E., Rossius, J., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.29.721708 · Cited by 1
Tachida, Y., Manian, K. V., Butcher, R. M., Levy, J. M., Pendse, N. D., Hennessey, E., Liu, D. R., Pierce, E. A., Liu, Q., & Comander, J. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.02.615422
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Liang, L., Yang, Y., Elise, F. J., Yu, J., Yin, X., Lu, G., Chen, B., & Xing, J. (2025) · Zeitschrift für Orthopädie und Unfallchirurgie · doi:10.1055/a-2616-0819
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Telli, K., Özdemir, B., Danışman, S., & Yücesan, E. (2025) · Genetics. · doi:10.5772/intechopen.1012213
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Sen, P. (2025) · Delhi Journal of Ophthalmology · doi:10.4103/dljo.dljo_142_25
One down but many more to go: the state of gene therapy for inherited retinal disease
Tan, T., Sun, C., Poh, S. S. J., Lim, J., Teo, J. X. J., Dey, S., Chua, Z., Guo, J., Wang, Z., Tay, H. G., et al. (2025) · Regenerative Medicine · doi:10.1080/17460751.2025.2571360
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da Palma, M. M., Salles, M. V., & Sallum, J. M. F. (2025) · Revista Brasileira de Oftalmologia · doi:10.37039/1982.8551.2025s3ex0002
Pagès, J. (2025) · médecine/sciences · doi:10.1051/medsci/2025124
Wiggs, J. L. (2025) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2025.10.003 · Cited by 1
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Roth, J. F., Chen, E., Cevasco, H., & Rivera, F. J. S. (2025) · Annual Review of Cancer Biology · doi:10.1146/annurev-cancerbio-070824-123431
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Khizar, M., Zaib, M. S., Ali, Q., & Mahato, R. K. (2025) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000004241
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Wang, J., Luo, J., Yin, S., Zhang, H. Q., Zhao, H., Feng, Z. X., Dimopoulos, I. S., Zhang, J., Guan, N., Chen, J., et al. (2025) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-025-07029-8
Zhang, Q., Yang, Y., Huang, X., Ma, J., Duan, Y., Ma, G., & Lei, H. (2026) · Experimental Eye Research · doi:10.1016/j.exer.2026.110891
Galdikaitė, E., Krušnauskas, R., Henderson, E., & Bujakowska, K. M. (2026) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2026.101462 · Cited by 1
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Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0002
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0009
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0004
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Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0006
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0011
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0008
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0003
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0012
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.002.0004
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0007
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0001
Legge, G. E. (2026) · Oxford University Press eBooks · doi:10.1093/9780198946960.003.0005
Menna, F., Pinelli, C., Luca, L. D., Meduri, A., Baldascino, A., Lupo, S., & Vingolo, E. M. (2026) · Biomedicines · doi:10.3390/biomedicines14040782
Sourd, C., Quinn, J., John, M. C., de la Cámara, C. M.-F., Wickramasinghe, L. C., Attar, M., Shamsnajafabadi, H., Salman, A., Cowley, S. A., Dendrou, C. A., et al. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201726 · Cited by 1
Gene therapy for diabetic retinopathy
Capobianco, M., Nicolosi, S. G., Cappellani, F., Khouyyi, M., D’Esposito, F., Gagliano, C., & Zeppieri, M. (2026) · World Journal of Clinical Cases · doi:10.12998/wjcc.v14.i11.119413
Gene Editing for Haemophilia—The Next Frontier
Pinotti, M., Newby, G. A., Selvaraj, S. R., & Pipe, S. W. (2026) · Haemophilia · doi:10.1111/hae.70238 · Cited by 1
Vitamins and retinitis pigmentosa: a single-center survey from an Italian cohort
Ruggeri, M. L., Quarta, A., Lorenzi, C., Ciacci, C. V. D. S., Calandra, M., Giansante, R., Toto, L., Stuppia, L., & Mastropasqua, R. (2026) · Therapeutic Advances in Ophthalmology · doi:10.1177/25158414261420920
The role of autophagy in ocular health: mechanisms, pathologies, and therapeutic strategies
Huang, M., Lin, Y., (25820), H. Z., Yuan, R., Zeng, L., Li, S., Yang, Q., Gong, M., Xiao, R., Jia, P., et al. (2026) · Biology Direct · doi:10.1186/s13062-026-00821-4
Exploring CRISPR/Cas9 Technology for The Modernization of Traditional Chinese Medicine
Shu-Xian, W. A. N. G., Guo, F., & Guang-Qiang, M. A. (2026) · PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS · doi:10.3724/j.pibb.2025.0505
He, M., Dong, N., Zhang, L., Wang, Y., Wu, H., Fang, H., & Tian, H. (2026) · Chinese Chemical Letters · doi:10.1016/j.cclet.2026.112939
Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions
Dhivagaran, T., Butt, F. R., Grover, K., Devgan, K., Sachdeva, K. S., Dhivagaran, V., Abid, F., Tao, B. K.-L., Balas, M., Dimopoulos, I. S., et al. (2026) · Journal of Personalized Medicine · doi:10.3390/jpm16060292
Ji, T., Zhang, Y., Zhao, J. J., Lu, Y., & Wang, C. (2026) · Neuroprotection/Neuroprotection (Chichester, England. Print) · doi:10.1002/nep3.70041
Tran, S., Trinquier, J., Meter, T. V., Zin, E. A., Nanteau, C., Riancho, L., Potey, A., Slembrouck-Brec, A., Delmas, M., Ferrari, U., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.05.730342
Transthyretin Amyloidosis—From Peculiar Neuropathy to a Treatable Chronic Multisystemic Disease
Zivkovic, S. A., & Avila, J. D. (2026) · Genes · doi:10.3390/genes17060680
Metadata
- Authors
- Pierce, E. A., Aleman, T. S., Jayasundera, K. T., Ashimatey, B. S., Kim, K., Rashid, A., Jaskolka, M. C., Myers, R. L., Lam, B. L., Bailey, S. T., Comander, J. I., Lauer, A. K., Maguire, A. M., & Pennesi, M. E.
- Affiliations
- Massachusetts Eye and Ear Infirmary (US)
- From the Ocular Genomics Institute, Department of Ophthalmology, Mass Eye and Ear and Harvard Medical School, Boston (E.A.P., J.I.C.), and Editas Medicine, Cambridge (B.S.A., K.K., A.R., M.C.J., R.L.M.) — both in Massachusetts; the Scheie Eye Institute and the Division of Ophthalmology of the Children’s Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (T.S.A., A.M.M.); the University of Michigan Kellogg Eye Center, Ann Arbor (K.T.J.); the Bascom Palmer Eye Institute, University of Miami, Miami (B.L.L.); and the Casey Eye Institute, Oregon Health and Science University, Portland (S.T.B., A.K.L., M.E.P.).
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2024-06-06
- Volume
- 390
- Issue
- 21
- Pages
- 1972-1984
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC11389875
- OpenAlex
- W4396676517
- Cited by
- 237
- References
- 41
- Citations by year
- 2026: 101 · 2025: 103 · 2024: 33
- FWCI
- 31.92
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Malcolm M. Marquis MD Endowed Fund for Innovation
- Research to Prevent Blindness
- Irene Heinz Given and John La Porte Given Endowment
- Hope For Vision
- National Eye Institute (P30 EY010572, P30 EY014104)
- Editas Medicine
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Keywords
- CRISPR/Cas9 genome editing, subretinal injection, photoreceptor function, best-corrected visual acuity, retinal sensitivity, vision-related quality of life, children, compound heterozygosity
- MeSH terms
- Gene Editing, Adolescent, Adult, Antigens, Neoplasm, Cytoskeletal Proteins, Female, Humans, Male, Middle Aged, Quality of Life, Retina, Retinal Degeneration, Visual Acuity, Genetic Therapy, Cell Cycle Proteins, Young Adult, Injections, Intraocular, CRISPR-Cas Systems
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