Gene therapy: overview and therapeutic applications

Abstract

Gene therapy represents a revolutionary vision of modern medicine, enabling diseases to be treated at their genetic root. By modifying the genetic material of somatic cells, this therapy aims to correct mutations, silence defective genes, or replace missing ones. Current strategies include gene silencing through RNA interference, using transgenes to compensate for deficiencies in certain genes, and precise genome editing with engineered nucleases.

Gene transfer is achieved using viral or non-viral vectors, employing physicochemical or biological methods. In ex vivo gene therapy, cells are manipulated in a laboratory before being reintroduced into the body; hematopoietic stem cells are often the target of this approach to address hematologic conditions and immune deficiencies. Conversely, the in vivo perspective involves making genetic modifications directly within the patient’s body, delivering a normal copy of a defective gene to target cells.

Initially, gene therapy demonstrated significant potential for treating hereditary monogenic disorders. Today, its scope has expanded to include acquired diseases such as cancer, acquired immunodeficiency syndrome, and neurodegenerative diseases. Nevertheless, major challenges remain, such as achieving efficient and safe gene delivery to target cells, reducing side effects, and addressing high costs. Germline gene therapy, which affects future generations, requires profound ethical considerations and strict oversight to ensure responsible use.

The field continues to evolve, with efforts aimed at improving safety, efficiency, and accessibility. Although significant obstacles remain, gene therapy holds great promise for tackling complex diseases and transforming their treatment paradigm. Hence, health professionals must stay up to date and understand the principles of gene therapy, along with its therapeutic applications. This article aims to summarize the most relevant information.