NAUKOWE ZERO #9: CZYM SĄ TERAPIE GENOWE I DLACZEGO KOSZTUJĄ TAK DUŻO

Summary

The video script delves into gene therapy, a cutting-edge medical procedure that corrects genetic defects at their source, offering hope for rare genetic diseases. It discusses the high costs involved, the complexities of gene editing technologies like CRISPR, and the challenges of personalized treatments. Despite the promise, gene therapy faces hurdles such as the high price tag due to individualization and the small patient pool, especially in Poland, where access to such treatments is limited and often not subsidized.

Takeaways

• 🌟 Gene therapy is an advanced and highly personalized medical procedure that involves repairing or replacing parts of DNA that are the source of a disease.
• 💊 Traditional treatments focus on symptoms, whereas gene therapy aims to solve the problem at its genetic root.
• 🧬 Gene therapy can be used to treat various diseases, including hereditary conditions and some types of cancer, provided the disease is caused by a gene mutation and its location in the DNA is known.
• 🔍 The process of gene therapy often involves using modified viruses to deliver healthy copies of genes into a patient's cells to replace or repair faulty ones.
• 🧬 Crispr-Cas is a gene-editing technology that allows scientists to make precise changes in DNA, correcting genetic mutations that lead to diseases.
• 🚀 The development of gene therapy is more complex and costly than traditional drug production due to the use of cutting-edge biotechnologies and the need for specialized knowledge and equipment.
• 💰 High costs of gene therapy are driven by the expenses of research, development, and clinical trials, as well as the individualization of treatments for specific patients or small patient groups.
• 🌐 International cooperation may be necessary for gene therapy clinical trials, especially for rare diseases, which increases the time, effort, and cost involved.
• 🏥 Poland has one of the lowest availability rates of treatments for rare diseases in the European Union, with only one gene therapy drug being refunded for a specific group of patients.
• 🛑 Gene therapy for rare diseases like Spinal Muscular Atrophy (SMA) can be life-changing, but without reimbursement, the cost of treatment is prohibitively high for most patients.
• 🔬 Gene therapy represents a significant advancement in medicine but also raises ethical considerations and potential for misuse due to its ability to modify human genetic material.

Q & A

What is gene therapy and why does it cost so much?

Gene therapy is an advanced and highly individualized medical procedure that involves repairing or replacing parts of the DNA that are the source of a disease. It is costly because it requires the latest research findings and technologies, such as CRISPR for gene editing, and the use of viral vectors for delivering genetic material, which are complex, require specialized knowledge, and advanced laboratory equipment.

How does gene therapy work in treating diseases?

Gene therapy works by introducing healthy copies of genes into a patient's cells to replace, repair, or compensate for damaged or malfunctioning genes. This can be done to treat various inherited diseases and some types of cancer, provided the disease is caused by a gene mutation and the location of the mutation in the DNA is known.

What are the challenges in applying gene therapy to treat diseases?

The challenges include the complexity of the human genome, where many diseases are caused by a combination of genetic and environmental factors, the high cost of developing and producing gene therapies, and the fact that gene therapies are still in the testing phase for many diseases.

How are genes delivered into patient's cells in gene therapy?

Genes are often delivered using vectors, which are typically modified viruses that have been stripped of their ability to cause disease but retain the ability to infect cells and introduce new genetic material.

What is the role of CRISPR in gene therapy?

CRISPR is a gene-editing technology that allows scientists to make precise changes in DNA, repairing genetic mutations that lead to diseases. It is a key tool in modern gene therapy for its ability to target and edit specific genes within a cell.

Why are gene therapies often very expensive even after the initial development phase?

Gene therapies are expensive due to the high costs of development, the use of cutting-edge technologies, the need for constant control of cells or viral vectors, and the individualized nature of some treatments. Additionally, the cost of clinical trials is often higher for gene therapies, and the patient pool for rare diseases is smaller, leading to higher costs per patient.

What is the situation of gene therapy availability in Poland?

Poland has one of the lowest indicators of availability of drugs used to treat rare diseases among all European Union countries. Only one drug is reimbursed, and even then, it covers only a part of the patients, specifically children with Spinal Muscular Atrophy (SMA).

How does the gene therapy for Spinal Muscular Atrophy (SMA) work?

The gene therapy for SMA involves a viral vector that carries a healthy copy of the SMN1 gene. Once administered, the nerve cells start producing the protein that is missing or not functioning properly in SMA patients, helping to restore muscle function.

What is the purpose of gene therapy in cancer treatment?

In cancer treatment, gene therapy aims to reprogram T-lymphocytes, or immune cells, so that they can recognize and destroy cancer cells. This is done by modifying the genes of the T-lymphocytes in a laboratory setting using a viral vector.

Why is the development of gene therapies for rare diseases important even if they benefit a small number of patients?

Developing gene therapies for rare diseases is important because it advances our knowledge and understanding of the human genome, which can then be applied to develop therapies for larger patient groups. Additionally, for patients with rare diseases, these therapies can be the only hope for survival.

What are the ethical considerations of gene therapy?

Gene therapy raises ethical considerations due to its potential to modify human genetic material, which could lead to misuse. However, it also offers the possibility of curing diseases that were previously untreatable, particularly for children with life-threatening conditions.