Walk again or stop blindness. How gene therapy is revolutionizing medicine

Walk again or stop blindness. How gene therapy is revolutionizing medicine

“It’s an impressive thing, an absolute revolution for medicine,” he says. Osvaldo Podhajesarmolecular biologist who integrates Leloir Institute who with their team are almost the only ones who investigate gene treatment in Argentina. These treatments are based on the concept of being able to modify a cell at the genetic level so that a disease can be reversed. Some examples that show how disruptive these treatments are are patients. Spinal Muscular Atrophy (SMA) those who sit or walk, those who progress to blindness from Alzheimer’s disease Labour and regained vision or those that were somehow cured leukemia, In that league, where science thins some fictional stories, it is this type of therapy at play that represents a unique window toward a new opportunity for thousands of people.

One of the possible techniques for performing this type of therapy is described by Hernan Martinoboss Scientific researcher from the University Hospital of Australia’s Pediatric Neurology and the Argentine Federation of Rare Diseases (Fedepof)Genetically modified is to administer genetic material to the patient by means of a viral vector. This modified virus, which also removed the possibility of being pathogenic, is the one that enters the cells and corrects the error.

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for its part, Susanna Baldinimedical director of the Argentine Chamber of Medicinal Specialties (Caeme)who, among other topics, talked about gene therapies at the first meeting of media and pharmawhich took place in Mendoza, in which they participated Country, show that the nucleus of the cell contains chromosomes, which are formed by genes. With each chromosome having two pairs, it is possible that one or both are mutated. Dominant diseases require only one copy to be abnormal to develop in the individual, whereas recessive diseases require both copies to be mutated. And those errors or mutations are what this type of therapy tries to correct.

The speaker in Media & Pharma, organized by the Argentine Chamber of Medicinal Specialties (Came) in Mendoza, was Juan Manuel Santa María, IQVIA General Manager for Southern Latin America;  Daniel Luna, Head of the Department of Informatics of the Italian Hospital;  Lukas Lehtinen, Executive Director of the Master's Degree in Intellectual Property at Universidad Australia;  Ruben Torres, health practitioners: Susanna Baldini, Keme's medical director, and Natalia Gandolfi, Keme's access manager
Speakers at the Medios and Pharma meeting organized by the Argentine Chamber of Medicinal Specialties (Came) in Mendoza were Juan Manuel Santa María, IQVIA General Manager for Southern Latin America; Daniel Luna, Head of the Department of Informatics of the Italian Hospital; Lukas Lehtinen, Executive Director of the Master’s Degree in Intellectual Property at Universidad Australia; Ruben Torres, health practitioners: Susanna Baldini, Keme’s medical director, and Natalia Gandolfi, Keme’s access manager

A little history

Podhajaser Explains that the first clinical trials of gene therapy took place in 1990 and involved genetically modifying the T lymphocytes of a girl who suffered from an immunodeficiency linked to the ADA (adenosine deaminase) gene. In boys who suffer from this disease, their immune system does not work properly and they have to stay in isolation. Since then, thousands of clinical studies have been conducted in this discipline, used in congenital metabolic diseases (where the mutated gene is known to be unable to produce normal proteins) and in more complex diseases such as cancer or neurodegenerative diseases. . ,

,Gene therapy has made remarkable progress And these children with mutations in the ADA gene can have gene therapy and can now lead normal lives with their reorganized immune systems. But advances in gene therapy have occurred not only in this disease in particular, but also extend to retinopathy, where people with blindness have regained their vision as if Leber congenital amaurosis. In this case, the RP65 gene is directly delivered to the retina. or with friends spinal muscular atrophy One who cannot sit can do so again after receiving specific gene therapy of the mutated gene which is also administered using viral vectors”, he details. Podhajaser,

amartino Recalls a case of a patient in the late 1990s who was treated for a disease OTC, which had a very severe immune reaction to the vector and died. This delayed many other research related to gene therapy. However, later studies continued and today the results are generally very successful. Of course, he claims amartinoThere is still not enough time to know if these treatments will have any effect for long-term use.

two types of gene therapy

On the one hand, this description amartinothere are in vivo therapy, In this type of therapy, the viral vector that transfers the gene can be applied directly to the organ or tissue where the disease is most affected.

“Instead, in ex vivo Stem cells are taken from the patient, we modify them and we insert a new gene into them. Then we re-infect the previously modified cells. It’s Like an Autotransplant, For that you have to first give him chemo and remove all his white blood cells. Whether one type of therapy or the other is used will depend on the patient’s disease, although there are diseases for which both methods are investigated,” says the expert.

An example of an ex vivo therapy is CAR-T. is used, “It is a cellular gene therapy where cells are taken from the patient and they are genetically manipulated so that they can attack the malignant cells. So the patient kills his own cancer. For now this type of treatment is mainly used for certain types of leukemia.“, he argues baldini,

Podhajaser warns that the use of car-t It is a treatment that, although it is already used, is very complex. An appropriate laboratory is required to modify these cells with the gene of interest. After modification, the cells are kept in the laboratory for some time and reintroduced to the patient. The patient must be close to that laboratory and the cells cannot be shipped from Argentina to the United States because they will not arrive properly.

another problem of car-tadd Podhajaser Like conventional cancer therapy, the tumor has resistance over time. CAR-Ts are usually directed against a specific protein that they recognize and use to attack the malignant cell. Unfortunately, tumors can recur from cells that do not express this protein and thus survive treatment.

“The third drawback is that car-t They do not work as a sole treatment in solid tumors, which are the most frequent tumors. And the reasons are simple: they work so well in hematopoietic tumors because they are cells that do not form a compact tumor tissue, unlike most cancers. And CAR-T just can’t enter the tumor,” he explains. Podhajaser,

Innovative, but too expensive

“One of the issues with these treatments is cost. Millions of dollars are being invested in research and development for hundreds of rare diseases, but this high level of investment is inevitably going to make the treatments very expensive”, he laments. express. amartino,

In Argentina, there was a case demonstrating the complexity of obtaining sufficient funding for this type of treatment. Emma, the child who suffered from SMA type 2 and required US$2,100,000 worth of medication from the Novartis laboratory. In order to increase that amount, the influential person Santiago Maratía launched the campaign “Everyone with Emmita”.

,Gene therapy far too expensive, on the order of hundreds of thousands of dollars. Many of the accepted gene therapies either cure a person with a previously incurable disease, or significantly increase their quality of life. To address the payment for these treatments, what is being achieved is negotiations between developing companies and states, because being rare diseases, there are not so many patients who need these treatments”, he says. . Podhajaser,

with your colleague, baldini Gives the example of Spain, where there is a “shared risk” scheme between companies and the state. If they give treatment to the patient and it is not successful, they do not pay for the said treatment.


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