Literature DB >> 29856367

Gene therapy and genome surgery in the retina.

James E DiCarlo1,2, Vinit B Mahajan3,4, Stephen H Tsang1,2.   

Abstract

Precision medicine seeks to treat disease with molecular specificity. Advances in genome sequence analysis, gene delivery, and genome surgery have allowed clinician-scientists to treat genetic conditions at the level of their pathology. As a result, progress in treating retinal disease using genetic tools has advanced tremendously over the past several decades. Breakthroughs in gene delivery vectors, both viral and nonviral, have allowed the delivery of genetic payloads in preclinical models of retinal disorders and have paved the way for numerous successful clinical trials. Moreover, the adaptation of CRISPR-Cas systems for genome engineering have enabled the correction of both recessive and dominant pathogenic alleles, expanding the disease-modifying power of gene therapies. Here, we highlight the translational progress of gene therapy and genome editing of several retinal disorders, including RPE65-, CEP290-, and GUY2D-associated Leber congenital amaurosis, as well as choroideremia, achromatopsia, Mer tyrosine kinase- (MERTK-) and RPGR X-linked retinitis pigmentosa, Usher syndrome, neovascular age-related macular degeneration, X-linked retinoschisis, Stargardt disease, and Leber hereditary optic neuropathy.

Entities:  

Keywords:  Genetics; Ophthalmology; Retinopathy

Mesh:

Year:  2018        PMID: 29856367      PMCID: PMC5983345          DOI: 10.1172/JCI120429

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  172 in total

Review 1.  An eye's view of T regulatory cells.

Authors:  Joan Stein-Streilein; Andrew W Taylor
Journal:  J Leukoc Biol       Date:  2006-12-28       Impact factor: 4.962

2.  Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors.

Authors:  Elena V Olshevskaya; Igor V Peshenko; Andrey B Savchenko; Alexander M Dizhoor
Journal:  J Neurosci       Date:  2012-05-23       Impact factor: 6.167

3.  Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Authors:  Mohamed Ksantini; Estèle Lafont; Béatrice Bocquet; Isabelle Meunier; Christian P Hamel
Journal:  Eur J Ophthalmol       Date:  2012 Jul-Aug       Impact factor: 2.597

4.  Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia.

Authors:  Eyal Banin; Elisha Gootwine; Alexey Obolensky; Raaya Ezra-Elia; Ayala Ejzenberg; Lina Zelinger; Hen Honig; Alexander Rosov; Esther Yamin; Dror Sharon; Edward Averbukh; William W Hauswirth; Ron Ofri
Journal:  Mol Ther       Date:  2015-06-19       Impact factor: 11.454

5.  The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.

Authors:  M Linari; M Ueffing; F Manson; A Wright; T Meitinger; J Becker
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-16       Impact factor: 11.205

Review 6.  Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

Authors:  Daniel C Chung; Elias I Traboulsi
Journal:  J AAPOS       Date:  2009-12       Impact factor: 1.220

7.  Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.

Authors:  Nicola G Ghazi; Emad B Abboud; Sawsan R Nowilaty; Hisham Alkuraya; Abdulrahman Alhommadi; Huimin Cai; Rui Hou; Wen-Tao Deng; Sanford L Boye; Abdulrahman Almaghamsi; Fahad Al Saikhan; Hassan Al-Dhibi; David Birch; Christopher Chung; Dilek Colak; Matthew M LaVail; Douglas Vollrath; Kirsten Erger; Wenqiu Wang; Thomas Conlon; Kang Zhang; William Hauswirth; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-01-29       Impact factor: 4.132

8.  AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa.

Authors:  Alexander J Smith; Frank C Schlichtenbrede; Marion Tschernutter; James W Bainbridge; Adrian J Thrasher; Robin R Ali
Journal:  Mol Ther       Date:  2003-08       Impact factor: 11.454

9.  Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.

Authors:  Karolina Plössl; Melanie Royer; Sarah Bernklau; Neslihan N Tavraz; Thomas Friedrich; Jens Wild; Bernhard H F Weber; Ulrike Friedrich
Journal:  Mol Biol Cell       Date:  2017-06-14       Impact factor: 4.138

10.  Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation.

Authors:  Christo Kole; Laurence Klipfel; Ying Yang; Vanessa Ferracane; Frederic Blond; Sacha Reichman; Géraldine Millet-Puel; Emmanuelle Clérin; Najate Aït-Ali; Delphine Pagan; Hawa Camara; Marie-Noëlle Delyfer; Emeline F Nandrot; Jose-Alain Sahel; Olivier Goureau; Thierry Léveillard
Journal:  Mol Ther       Date:  2017-09-08       Impact factor: 11.454

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  38 in total

1.  CRISPR-Cas9 Disruption of Aquaporin 1: An Alternative to Glaucoma Eye Drop Therapy?

Authors:  András M Komáromy
Journal:  Mol Ther       Date:  2020-02-20       Impact factor: 11.454

Review 2.  Uveitis: contrasting the approaches in Japan and the United States.

Authors:  James T Rosenbaum
Journal:  Jpn J Ophthalmol       Date:  2018-11-20       Impact factor: 2.447

3.  The Role of FGF9 in the Production of Neural Retina and RPE in a Pluripotent Stem Cell Model of Early Human Retinal Development.

Authors:  David M Gamm; Eric Clark; Elizabeth E Capowski; Ruchira Singh
Journal:  Am J Ophthalmol       Date:  2019-05-10       Impact factor: 5.258

Review 4.  STEM CELL THERAPIES, GENE-BASED THERAPIES, OPTOGENETICS, AND RETINAL PROSTHETICS: Current State and Implications for the Future.

Authors:  Edward H Wood; Peter H Tang; Irina De la Huerta; Edward Korot; Stephanie Muscat; Daniel A Palanker; George A Williams
Journal:  Retina       Date:  2019-05       Impact factor: 4.256

5.  Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.

Authors:  Kathleen A Christie; Louise J Robertson; Caroline Conway; Kevin Blighe; Larry A DeDionisio; Connie Chao-Shern; Amanda M Kowalczyk; John Marshall; Doug Turnbull; M Andrew Nesbit; C B Tara Moore
Journal:  Mol Ther       Date:  2020-05-08       Impact factor: 11.454

6.  A Common Outer Retinal Change in Retinal Degeneration by Optical Coherence Tomography Can Be Used to Assess Outcomes of Gene Therapy.

Authors:  Myung Kuk Joe; Wenbo Li; Suja Hiriyanna; Wenhan Yu; Shreya A Shah; Mones Abu-Asab; Haohua Qian; Zhijian Wu
Journal:  Hum Gene Ther       Date:  2019-12-04       Impact factor: 5.695

Review 7.  Pluripotent Stem Cell-Based Organoid Technologies for Developing Next-Generation Vision Restoration Therapies of Blindness.

Authors:  Ratnesh K Singh; Francois Binette; Magdalene Seiler; Simon M Petersen-Jones; Igor O Nasonkin
Journal:  J Ocul Pharmacol Ther       Date:  2020-10-14       Impact factor: 2.671

8.  Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.

Authors:  Worapoj Jinda; Aekkachai Tuekprakhon; Wanna Thongnoppakhun; Chanin Limwongse; Adisak Trinavarat; La-Ongsri Atchaneeyasakul
Journal:  Int Ophthalmol       Date:  2020-08-31       Impact factor: 2.031

9.  Precision metabolome reprogramming for imprecision therapeutics in retinitis pigmentosa.

Authors:  Salvatore Marco Caruso; Joseph Ryu; Peter Mj Quinn; Stephen H Tsang
Journal:  J Clin Invest       Date:  2020-08-03       Impact factor: 14.808

Review 10.  Retina Metabolism and Metabolism in the Pigmented Epithelium: A Busy Intersection.

Authors:  James B Hurley
Journal:  Annu Rev Vis Sci       Date:  2021-06-08       Impact factor: 6.422

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