Gene therapy concept render

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

About this subject

Gene therapy involves introducing, removing, or altering genetic material within a patient's cells to treat or cure diseases. The main approaches include ex vivo gene therapy, where cells are removed, modified in the lab, and reintroduced, and in vivo therapy, where the genetic vector is administered directly into the body. Notable examples are Kymriah (tisagenlecleucel), a CAR-T treatment for acute lymphoblastic leukemia approved by the FDA in 2017, and Luxturna (voretigene neparvovec) for inherited retinal dystrophy caused by RPE65 mutations.

CRISPR-Cas9, discovered in 2012 by Jennifer Doudna and Emmanuelle Charpentier, revolutionized the field by enabling precise genome editing. In Brazil, ANVISA has approved clinical trials for gene therapy, such as CAR-T cells for lymphomas at institutions like Hospital Albert Einstein. However, challenges remain: the patient's immune response can neutralize viral vectors, and off-target editing continues to be a risk. The high cost, reaching hundreds of thousands of dollars per treatment, limits accessibility.

Globally, more than 20 gene therapies are approved, mostly for cancer and rare diseases. The COVID-19 pandemic also boosted mRNA vaccine development, which shares principles with gene therapy. International regulations, such as FDA and EMA guidelines, require stringent safety and efficacy trials. The future points to combinations with artificial intelligence for vector optimization and adverse effect prediction, plus therapies for common diseases like diabetes and hypertension.

Frequently Asked Questions

What are the risks of gene therapy?

Main risks include adverse immune reactions such as severe inflammation, and the possibility of off-target editing, which can cause unwanted mutations. Viral vectors may also integrate into the genome at unintended sites, increasing cancer risk.

Is gene therapy available in Brazil's public healthcare system (SUS)?

Gene therapy is not widely covered by SUS. It is available in clinical trials and specific cases, but most treatments are only accessible through private health insurance or court orders. High cost remains a barrier.

What is the difference between gene therapy and gene editing?

Gene therapy typically inserts a functional gene to compensate for a mutation, whereas gene editing (e.g., CRISPR) directly alters the DNA at the mutation site. Both can be curative, but editing offers greater precision.