Gene therapy concept render

Gene therapy is an innovative technique that modifies genes to treat diseases, using viral vectors or CRISPR editing.

About this subject

Gene therapy involves the introduction of functional genetic material into a patient's cells to correct a genetic defect or confer a new function. It can be performed ex vivo, with cells removed, modified, and reinserted, or in vivo, with the vector administered directly into the body. Early clinical successes occurred in rare inherited diseases such as severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA). In 2017, the FDA approved Kymriah for acute lymphoblastic leukemia, one of the first CAR-T therapies based on genetic modification of immune cells.

Viral vectors, such as retroviruses and adenoviruses, are used to deliver the therapeutic gene, but can cause immune responses or random insertion. Newer technologies like CRISPR-Cas9 allow direct editing of genes in the genome, increasing precision. Clinical trials using CRISPR are underway for sickle cell disease, beta-thalassemia, and some cancers. Editing of somatic cells is more ethically accepted, while germline editing (heritable changes) remains debated and banned in many countries.

Despite advances, gene therapy faces challenges: efficient delivery to specific tissues, off-target effects, durability of effect, and high cost. In Brazil, the public health system (SUS) already provides treatments like Zolgensma for SMA, one of the most expensive drugs in the world. Regulation by ANVISA follows international guidelines to ensure safety. The future includes combinations with immunotherapy and personalized medicine, aiming for cures for complex diseases.

Frequently Asked Questions

What is gene therapy and how does it work?

Gene therapy is a technique that modifies genes to treat or prevent disease. It works by inserting, removing, or altering genetic material in a patient's cells, using viral vectors or tools like CRISPR.

Which diseases can be treated with gene therapy?

Currently, it is used for rare inherited diseases (like SMA and SCID), some cancers (leukemia, lymphoma), and in clinical trials for diseases such as sickle cell disease and beta-thalassemia.

Is gene therapy safe and accessible in Brazil?

Safety is regulated by ANVISA and ethics committees. In Brazil, the public health system (SUS) offers Zolgensma for SMA and CAR-T treatments for leukemia. High cost remains a barrier for many patients.