Gene therapy concept render

Gene therapy is a groundbreaking technique that modifies or replaces faulty genes to treat or prevent diseases, offering hope for previously incurable conditions.

About this subject

Gene therapy involves introducing functional genetic material into a patient's cells to correct a genetic defect. There are two main approaches: somatic gene therapy, which alters non-reproductive cells and is not inherited, and germline therapy, which modifies reproductive cells and is passed to offspring (the latter remains controversial and mostly prohibited).

Viral vectors, such as adeno-associated viruses (AAV) and lentiviruses, are commonly used to deliver the therapeutic gene. In recent years, treatments like Luxturna (for inherited retinal dystrophy) and Zolgensma (for spinal muscular atrophy) have been approved by regulatory agencies, showing clinical efficacy. However, challenges remain: immune response to the vector, difficulty targeting specific tissues, and high costs, some treatments exceed US$2 million.

The field has also advanced with CRISPR-Cas9 gene editing, which allows precise cutting and replacement of DNA sequences. Clinical trials are underway for sickle cell disease, beta-thalassemia, and certain cancers. Despite its potential, ethical and safety concerns persist, particularly regarding off-target effects and global accessibility. In Brazil, research is conducted at institutions like Instituto Butantan and USP, focusing on rare genetic diseases and cancer immunotherapies.

Frequently Asked Questions

How does gene therapy work?

Gene therapy introduces healthy copies of genes into the patient's cells, often using a viral vector to carry the genetic material. The functional gene then produces the needed protein to correct the disease.

What diseases can be treated with gene therapy?

Currently approved treatments include inherited retinal dystrophy, spinal muscular atrophy, and severe combined immunodeficiencies. Clinical trials are expanding to sickle cell disease, beta-thalassemia, and certain cancers.

What are the risks of gene therapy?

Main risks include immune response to the vector, insertional mutagenesis (activating oncogenes), and off-target effects in gene editing. Rigorous clinical trials and safer techniques are reducing these dangers.