![]() ![]() ![]() Nevertheless, this approach has several limitations, such as its low editing efficiency and unwanted genome‐editing events where the donor DNA template is more frequently inserted into the genome randomly than at the desired location. 6 Since then, this technique has enabled the study of human diseases in mouse and other animal models and contributed considerably in the process of drug discovery and development. ![]() ![]() In the late 80s, this same natural homologous recombination‐based approach was used in mouse embryonic stem cells to generate mice with a specific genotype. 1 Genome‐editing strategies were first developed in yeast 2, 3 and then in mammalian cells, 4, 5 in which small portions of the genome were substituted with exogenous donor DNA sequences via the endogenous homologous recombination repair pathway. The perfect genome‐editing tool has to be able to alter a genomic sequence efficiently, showing high DNA sequence specificity, and minimal off‐target effects. It is revolutionizing the biomedical research field and holds promise to treat or prevent many human genetic disorders. Genome editing is a type of genetic engineering where DNA is manipulated at the single‐base level. In this review, we focus on several in vitro, in vivo and ex vivo applications of the CRISPR/Cas9 system in human disease‐focused research, explore the potential of this technology in translational medicine and discuss some of the major challenges for its future use in patients. However, the translation of CRISPR/Cas9 into the clinics will be challenging, since we still need to improve the efficiency, specificity and delivery of this technology. The therapeutic potential of these technologies is tremendous, particularly in gene therapy, in which a patient‐specific mutation is genetically corrected in order to treat human diseases that are untreatable with conventional therapies. CRISPR/Cas9 system‐based technologies have armed researchers with new powerful tools to unveil the impact of genetics on disease development by enabling the creation of precise cellular and animal models of human diseases. The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome‐editing tool has revolutionized basic science research. ![]()
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