Gene therapy concept render

Gene therapy is an innovative technique that modifies genes to treat or prevent diseases, with applications in hereditary disorders and cancer.

About this subject

Gene therapy involves the introduction, removal, or alteration of genetic material within a patient's cells to treat a medical condition. The first approved clinical trial in the United States took place in 1990, targeting children with severe combined immunodeficiency (SCID). Since then, the field has evolved dramatically, especially with the development of viral vectors like adeno-associated viruses (AAV) and lentiviruses that deliver functional genes to target cells.

A major milestone was the approval in 2017 of tisagenlecleucel (Kymriah), a CAR-T therapy for acute lymphoblastic leukemia, and voretigene neparvovec (Luxturna) for inherited retinal dystrophy. In Brazil, the first gene therapy approved by ANVISA was Zolgensma for spinal muscular atrophy in 2020. Currently, over 2,000 clinical trials are underway globally, exploring from monogenic diseases to complex conditions like Alzheimer's and HIV.

Despite its potential, gene therapy faces challenges such as immune responses to vectors, high costs (some treatments exceed US$2 million), and ethical concerns about germline editing. Gene-editing tools like CRISPR-Cas9 enable precise corrections, but long-term safety is still under investigation. Research continues to advance, offering hope for previously incurable diseases.

Frequently Asked Questions

How does gene therapy work?

It inserts, removes, or alters genes in a patient's cells, usually using a viral vector (like an inactivated virus) to deliver the genetic material. The goal is to correct a mutation or introduce a therapeutic function.

What diseases can be treated with gene therapy?

Currently, monogenic diseases like spinal muscular atrophy, retinal dystrophy, and combined immunodeficiencies are primary targets. Advances also include cancer (CAR-T therapies) and infectious diseases like HIV.

Is gene therapy safe?

Clinical trials show manageable risks, such as immune reactions or vector toxicity. Long-term safety is still monitored, and approved treatments undergo rigorous testing.