Gene Therapy in Rare and Monogenic Diseases: Progress, Strategies, and Clinical Applications

Gene therapy has emerged as a promising approach for the treatment of rare and monogenic diseases by directly correcting or modulating genetic defects. Advances in viral and non-viral delivery systems, genome-editing technologies, and in vivo and ex vivo therapeutic strategies have significantly improved the safety and effectiveness of gene-based treatments. This review summarizes the historical development of gene therapy, key therapeutic strategies, and recent clinical applications in rare diseases, including blood, neuromuscular, neurological, and ocular disorders. Despite encouraging clinical outcomes, challenges such as immune responses, high manufacturing costs, and regulatory complexities continue to limit widespread adoption. Ongoing technological innovation and regulatory harmonization are essential to translate gene therapy into an accessible and sustainable therapeutic option.