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

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


“It’s something impressive, an absolute revolution for medicine,” he says. Osvaldo Podhajesarmolecular biologist who integrates Leloir Institutewho with their team are almost the only ones to investigate gene therapy 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. A few examples that show how disruptive these treatments are are patients. Spinal muscular atrophy (SMA) those who sit or walk, those who progress to blindness due to Alzheimer’s disease Work and regained vision or those who were somehow healed leukemiaIn this league, where science sheds light on some fictional stories, it’s this type of in-game therapy that represents a unique window to a new opportunity for thousands of people.

One of the possible techniques to perform this type of therapy is described Hernan Martinochief Research scientists from the University Hospital of Australia’s Pediatric Neurology and the Argentine Federation of Rare Diseases (Fedepof)Genetically modified consists in administering 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.

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

Speakers at the Medios and Pharma meeting hosted by the Argentine Chamber of Medicinal Specialties (Came) in Mendoza were Juan Manuel Santa María, IQVIA General Manager for South Latin America; Daniel Luna, head of the IT department of the Italian hospital; Lukas Lehtinen, Executive Director of the Masters in Intellectual Property at Universidad Australia; Ruben Torres, Health Practitioners: Susanna Baldini, Keme Medical Director, and Natalia Gandolfi, Keme 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 cells of a young girl with an immune deficiency linked to the ADA (adenosine deaminase) gene. In boys who suffer from this disease, their immune system does not work properly and they must remain isolated. Since then, thousands of clinical studies have been carried out 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 those children with ADA gene mutations can benefit from gene therapy and can now lead normal lives with their reorganized immune systems. But advances in gene therapy have occurred not only in this particular disease, but also extend to retinopathy, where people with blindness have regained their vision as if Leber’s congenital amaurosis. In this case, the RP65 gene is directly delivered to the retina. or with friends spinal muscular atrophy Anyone who cannot sit can do so again after receiving specific gene therapy for the mutated gene which is also administered using viral vectors,” he explains. Podhajaser,

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

two types of gene therapy

On the one hand, this description amartino, there is in-vivo therapyIn 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 insert a new gene. Then we reinfect the previously modified cells. It’s like an autograftTo do this, you must first give him chemo and remove all his white blood cells. The use of one type of therapy or the other will depend on the disease of the patient, although there are diseases for which both methods are studied, ”explains the expert.

An example of ex vivo therapy is CAR-T. is used“This is cell gene therapy where cells are taken from the patient and they are genetically engineered so that they can attack the malignant cells. Thus, the patient kills their own cancer. For now, this type of treatment is mainly used for certain types of leukemia.“, he pleads baldin,

Podhajaser warns that the use of Cart 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 a certain time and reintroduced to the patient. The patient must be close to this laboratory and the cells cannot be shipped from Argentina to the United States because they will not arrive correctly.

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

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

Innovative, but overpriced

“One of the issues with these treatments is the cost. Millions of dollars are invested in research and development for hundreds of rare diseases, but this high level of investment will inevitably make 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 needed US$2,100,000 of drugs from the Novartis laboratory. In order to increase this amount, the influential person Santiago Maratía launched the “All with Emmita” campaign.

,Too expensive gene therapy, in 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 improve their quality of life. To settle the payment of these treatments, what is done are negotiations between the developing companies and the States, because being rare diseases, there are not so many patients who need these treatments, ”says -he. . Podhajaser,

with your colleague, baldin Gives the example of Spain, where there is a “shared risk” regime between companies and the state. If they give a treatment to the patient and he does not succeed, they do not pay for said treatment.