Year: 2018
Type: review
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.
DOI: 10.1172/jci120429
Authors: James E. DiCarlo, Vinit B. Mahajan, Stephen H. Tsang
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Awards: Core Facilities for Vision Research, Mechanism-based therapies for photoreceptor degeneration, Evaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS Cells, Mechanistic Studies on Regenerative Medicine Approaches to Childhood Blindness, Structure and Function of Calpain-5, G8415332196, G9000235408, Defining Barriers to Gene Therapy, Stanford Vision Research Core, Gene Editing and Silencing in Phototransduction, Cancer Center Support Grant
OpenAlex ID: W2807488219