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Genome Editing pp 149–162Cite as

Genome Editing in the Retina: A Case Study in CRISPR for a Patient-Specific Autosomal Dominant Retinitis Pigmentosa Model

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Abstract

The future of precision medicine, genome editing has gained momentum in the field of ophthalmology because of the eye’s amenability to genetic interventions. The eye is an ideal target for gene therapy due to its accessibility, ease of noninvasive monitoring, significant compartmentalization, immunoprivileged status, optical transparency, and the presence of a contralateral control. One of the first gene therapy clinical trials was conducted in the eye for a severe form of early-onset retinal dystrophy called Leber congenital amaurosis, and it has encouraged further exploration of this technique as a viable treatment option for other inherited disorders across medical disciplines. This chapter highlights current ocular gene therapy approaches, clinical and preclinical experiments, and provides a case study of the bench-to-bedside personalized medicine approach taken for a novel and rare retinitis pigmentosa mutation.

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Acknowledgments

Funding/Support: V.B.M. is supported by the National Institutes of Health [K08EY020530, R01EY016822, R01EY024665, R01EY025225, R01EY024698 and R21AG050437], Doris Duke Charitable Foundation Grant #2013103, and Research to Prevent Blindness, New York, NY. G.V. is supported by the NIH [T32GM007337]. The Barbara & Donald Jonas Laboratory of Regenerative Medicine is supported by the National Institute of Health Core [5P30EY019007], National Cancer Institute Core [5P30CA013696], unrestricted funds from Research to Prevent Blindness (RPB), New York, NY, USA. S.H.T. is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation, the National Institute of Health [R01EY018213], the Research to Prevent Blindness Physician-Scientist Award, Association for Research in Vision and Ophthalmology (ARVO) Foundation, Macula Society, the Schneeweiss Stem Cell Fund, New York State [C029572], the Foundation Fighting Blindness New York Regional Research Center Grant [C-NY05-0705-0312], the Joel Hoffman Fund, the Professor Gertrude Rothschild Stem Cell Foundation, and the Gebroe Family Foundation. V.B.M. is supported by the National Institutes of Health [K08EY020530, R01EY016822], Doris Duke Charitable Foundation Grant #2013103, and Research to Prevent Blindness, New York, NY. G.V. is supported by the NIH [T32GM007337].

Author information

Authors and Affiliations

  1. Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, 635 West 165th Street, New York, NY, 10032, USA

    Sally Justus, Andrew Zheng, Yi-Ting Tsai, Wen-Hsuan Wu, Chun-Wei Hsu, Wei-Pu Wu & Stephen H. Tsang M.D., Ph.D.

  2. Department of Pediatrics, The University of Iowa Children’s Hospital, 25 S. Grand Avenue, MedLabs Building 2040A, Iowa City, IA, 52246, USA

    Alexander G. Bassuk

  3. Department of Ophthalmology, Iowa University Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA

    Vinit B. Mahajan

  4. Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, 635 West 165th Street, New York, NY, 10032, USA

    Stephen H. Tsang M.D., Ph.D.

  5. Edward S. Harkness Eye Institute, New York-Presbyterian Hospital/Columbia University Medical Center, 635 West 165th Street, 112, New York, NY, 10032, USA

    Stephen H. Tsang M.D., Ph.D.

Authors
  1. Sally Justus
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  2. Andrew Zheng
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  3. Yi-Ting Tsai
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  4. Wen-Hsuan Wu
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  5. Chun-Wei Hsu
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  6. Wei-Pu Wu
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  7. Alexander G. Bassuk
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  8. Vinit B. Mahajan
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  9. Stephen H. Tsang M.D., Ph.D.
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Correspondence to Stephen H. Tsang M.D., Ph.D. .

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Editors and Affiliations

  1. Ottawa, Ontario, Canada

    Kursad Turksen

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Justus, S. et al. (2016). Genome Editing in the Retina: A Case Study in CRISPR for a Patient-Specific Autosomal Dominant Retinitis Pigmentosa Model. In: Turksen, K. (eds) Genome Editing. Springer, Cham. https://doi.org/10.1007/978-3-319-34148-4_9

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