Gene therapy against rare diseases provides quality of life, does not promise a cure, for now

Gene therapies are increasingly present in the treatment of rare diseases, said Juan Carlos García Beristáin, a neuropediatrician and one of the doctors with the most experience in this topic in the country.

In interview with the The Day, The specialist pointed out that in the world there are between 300 and 400 million people who suffer from a rare disease, of which there are between 25 and 30 million patients in the United States alone.

In Mexico there are 30 thousand people with a diagnosis and treatment for a disease of this type.

He detailed that Although the estimates are not exact, the data would lead us to think that there are 2.5 million Mexicans who suffer from a rare disease and are unaware of it..

He added that in the treatment of these diseases, which can range from vision, neuromuscular and metabolic disorders, as well as neurodegenerative disorders, gene therapy has taken center stage, a technique through which a healthy gene is inserted into the cells of a patient, to correct the malfunction of one that is defective or that has suffered a mutation, which has caused the problem.

Bioethical debates and high costs

But until now, applying gene therapy faces debates in bioethical terms, because genetic material is used to make modifications to DNA. Another limitation is the high costs that restrict its application to private medical spaces.

The expert, who participated in the VIP Genethic Meeting, a meeting on genetics and its role in the diagnosis, treatment and prevention of diseases, pointed out that all the treatments that have been applied so far in the country are approved by Cofepris and international organizations.

In Mexico, he continued, The real dilemma we will face is that despite having the possibility of diagnosing genetic diseases more frequently, how much possibility do we have of treating them?

However, García Beristain added that it is important for patients and their families to know that until now the therapy improves quality of life and stops the progression of the disease, but in no way promises a 100% cure.

He also stated that there are no gene therapies for all types of diseases, Those that are being attended to are the rare, very specific ones, for which some specific therapy has been launched..

Regarding their costs and that most are applied by private laboratories, he mentioned that They are performed in private areas, and the procedures that we have been able to develop belong to early access programs promoted by laboratories and pharmaceutical companies, so that some patients can receive them at no cost..

He specified that this allows doctors to have contact with information about the molecules, know how they work and evaluate the responses. to make way for the commercial access that laboratories seek for treatments.

For the neuropediatrician, the future of these treatments must be focused on impacting more prevalent diseases; For example, hypertension.