Genome editing and its research advances in eye diseases

• 1、Tianjin Medical University Eye Hospital, Tianjin Medical University Eye Institute, College of Optometry and Ophthalmology, Tianjin 300384
• 2、College of Biomedical Engineering and Technology, Tianjin Medical University, Tianjin 300070
• 3、College of Clinical Medicine, Gansu University of Chinese Medicine, Lanzhou 730000

Abstract：Genome editing is a cutting-edge technology that generates DNA double strand breaks at the specific genomic sequence through nuclease recognition and cleavage and then achieves deletion, insertion, or replacement of the target gene via endogenous DNA repair mechanisms, such as non-homologous end joining, homology directed repair, and homologous recombination. To date, more than 600 human hereditary eye diseases and systemic hereditary diseases with ocular phenotypes have been found, however, most of these diseases are of elusive pathogenesis and without effective therapies. Genome editing technology can precisely target and alter genomes of animals, establish animal models of the hereditary diseases, elucidate the relationship between the target gene and the disease phenotype, thereby providing a powerful approach to study the pathogenic mechanisms underlying the hereditary eye diseases. In addition, correction of gene mutations by the genome editing brings new hope to the gene therapy to the hereditary eye diseases. This review introduces the molecular characteristics of the 4 major enzymes used in the genome editing, including homing endonucleases, zinc finger nucleases, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats (CRISPR) / CRISPR-associated protein 9 (Cas9), summarizes the current applications of this technology in investigating the pathogenesis and improving the therapeutics of the hereditary eye diseases.

Keywords： heriditary eye disease genome editing pathogenic mechanism gene therapy