Genetic therapy for hereditary diseases: successes and challenges

Genetic therapy is a method of treating diseases based on interfering with a person’s genetic material.

This approach is used to treat inherited diseases that result from mutations in genes.

Recent advances in genetics are opening new horizons in medicine, but despite the advances, there are many challenges related to safety, accessibility and ethical aspects.

What is genetic therapy?

Genetic therapy aims to correct or replace defective genes that cause various diseases.

In the 1990s, scientists began experimenting with this method, and to date we have seen significant advances in its use to treat diseases such as cystic fibrosis, hemophilia, and some cancers.

Principles of genetic therapy:

1. Gene replacement – replacing a damaged gene with a normal version.
2. Gene correction – correction of mutations in DNA.
3. Gene activation – turning on the normal activity of a gene.

Advances in genetic therapies

Genetic therapies have taken a step forward in recent decades, with successful clinical trials in the treatment of inherited diseases.

For example, in 2019, the first cystic fibrosis drug was approved for the treatment of cystic fibrosis, which aims to restore the function of a defective gene.

Another significant achievement was a therapy to treat hereditary blindness, where restoring the gene allowed patients to regain their sight.

Examples of successful cases:

• Treatment of sickle cell anemia.
• Treatment of rare forms of cancer using gene therapy.
• Gene correction in hereditary deficiency of the immune system.

Challenges and issues in genetic therapies

Despite significant advances, genetic therapies face several major challenges.

1. High cost – developments in this area are still very expensive. This limits accessibility to the general population.
2. Safety – tampering with genetic material requires strict controls as there are risks such as uncertain side effects.
3. Ethical issues – tampering with genetic code raises ethical issues, especially in the context of human gene editing.

How does genetic therapy work?

Genetic therapy involves several key steps:

1. Delivery of genes into the patient’s cells using viral or non-viral carriers.
2. Introduction of genetic material directly into cells that require correction.
3. Monitoring and correction of treatment to assess effectiveness and prevent possible complications.

Table 1: Application of genetic therapy in the treatment of hereditary diseases

Disease	Treatment method	Result
Cystic fibrosis	Replacing a defective gene	Restoring lung function
Sickle cell anemia	Gene correction	Improved hematopoiesis
Hereditary blindness	Gene reconstitution	Restoration of vision

Many of these diseases, such as cystic fibrosis or sickle cell anemia, have long been considered incurable.

However, recent advances in genetic therapies are opening new horizons for treating such diseases at the molecular level.

It is important to note that, despite the advances, treatment for such diseases remains expensive and not available to everyone.

Continued progress in the field of genetic therapies

Current developments in gene therapy are striving to make treatments more accessible and safer.

Research is underway to create more efficient methods of delivering genes into cells, and to improve the accuracy of genome editing using technologies such as CRISPR.

In the coming years, we can expect new breakthroughs in the treatment of inherited diseases that can significantly improve the quality of life of patients.

Table 2: Stages in the application of gene therapy

Stage	Description	Issues and challenges
Gene delivery	Introduction of genetic material into cells	Risks of side effects
Introduction of genetic material	Direct interference with DNA	High cost
Treatment monitoring	Evaluation of effectiveness and safety	Uncertain consequences

The development of new technologies and improvements in existing techniques are making gene therapy more accessible to a wider range of patients.

However, challenges remain, such as high costs and long-term risks related to safety and side effects.

Prospects and future of genetic therapies

With the development of CRISPR and other gene editing techniques, new opportunities for the treatment of inherited diseases are opening up.

In the coming years, we can expect to see new effective drugs that will allow us to treat diseases at the molecular level.

Future Directions:

1. Development of more efficient and safer ways to deliver genetic material.
2. Creation of affordable genetic tests for early diagnosis of diseases.
3. Accelerating clinical trials of new therapies.

Conclusion

Genetic therapy is a revolutionary step in the treatment of inherited diseases.

Despite existing challenges, such as high cost and safety, progress in this field is unstoppable, and in the future it may lead to treatments for diseases that were previously considered incurable.

It is important to continue to support research and development to make these techniques available to more people.

List of references:

1. Anderson, W. F. et al. (2019). “Gene Therapy for Mucopolysaccharidoses.” New England Journal of Medicine, 380(1), 53-62.
2. Kohn, D. B. et al. (2020). “Gene Therapy for Hemophilia.” The Lancet Haematology, 7(7), e474-e483.
3. Moulton, H. M. et al. (2018). “Gene Editing for Inherited Diseases.” Science Advances, 4(8), eaav3500.