GENOME EDITING BY THE CRISPR/CAS METHOD IN MEDICAL GENETICS

Butyrskaya Tatiana Semenovna, Marinina Inna Alexandrovna

The article is devoted to the modern achievements in genome editing using the CRISPR/Cas system and assesses its potential applications in medical genetics. The paper describes the fundamental principles of the CRISPR/Cas9 mechanism, including the interaction between guide RNA and DNA target sites and the function of Cas endonuclease. A review of studies from 2014 to 2025 is presented, focusing on technological improvements such as Cas12, Cas13, and prime editing systems. Particular attention is paid to the clinical outcomes of CRISPR/Cas-based therapies for hereditary blood disorders, the molecular mechanisms underlying precise DNA modification, and the role of this system in creating new therapeutic strategies. Additional emphasis is placed on the potential of this technology in treating ophthalmological and neurodegenerative diseases, as well as its emerging role in mitochondrial genome correction. The article discusses current challenges related to editing accuracy, delivery systems for target cells, and the ethical and legal aspects of medical implementation. It concludes that CRISPR/Cas represents a highly promising tool for personalized gene therapy, offering innovative strategies for treating genetic diseases while maintaining biosafety and ethical principles.

Keywords:CRISPR/Cas9, genome editing, medical genetics, gene therapy, hereditary diseases, prime editing, ethics, personalized medicine