title: In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.
abstract: Reliable genome editing via Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/Cas9 may provide a means to correct inherited diseases in patients. As proof of principle, we show that CRISPR/Cas9 can be used in vivo to selectively ablate the rhodopsin gene carrying the dominant S334ter mutation (Rho(S334)) in rats that model severe autosomal dominant retinitis pigmentosa. A single subretinal injection of guide RNA/Cas9 plasmid in combination with electroporation generated allele-specific disruption of Rho(S334), which prevented retinal degeneration and improved visual function.
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Bakondi
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.|Current address: Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA.
authors.forename: Wenjian
authors.initials: W
authors.lastname: Lv
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Bin
authors.initials: B
authors.lastname: Lu
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Melissa K
authors.initials: MK
authors.lastname: Jones
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Yuchun
authors.initials: Y
authors.lastname: Tsai
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Kevin J
authors.initials: KJ
authors.lastname: Kim
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Rachelle
authors.initials: R
authors.lastname: Levy
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Aslam Abbasi
authors.initials: AA
authors.lastname: Akhtar
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Joshua J
authors.initials: JJ
authors.lastname: Breunig
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Clive N
authors.initials: CN
authors.lastname: Svendsen
authors.affiliation: Board of Governors Regenerative Medicine Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: Shaomei
authors.initials: S
authors.lastname: Wang
mesh_terms: D000483:Alleles; D000818:Animals; D001665:Binding Sites; D064113:CRISPR-Cas Systems; D000072669:Gene Editing; D023061:Gene Order; D015316:Genetic Therapy; D005822:Genetic Vectors / Q000235:genetics; D006801:Humans; D009154:Mutation; D010641:Phenotype; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism; D000094704:RNA, Guide, CRISPR-Cas Systems; D051381:Rats; D058499:Retinal Dystrophies / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D013569:Synapses / Q000378:metabolism; D020741:rho GTP-Binding Proteins / Q000235:genetics*
chemical_list: D000094704:RNA, Guide, CRISPR-Cas Systems; D020741:rho GTP-Binding Proteins