Everything that has happened in the last two years in Argentine science with research on Covid, including the “national” vaccines that are in development, has highlighted something: the importance of local researchers committing themselves -as much as possible- to resolution of health or science problems that society exhibits and suffers from. This is precisely the case of a public presentation, made this week, in which an investigation led by one of the top Argentine experts, although dedicated to basic biology issues, who joined forces with a NGO of parents whose children suffer from a rare disease. And he dedicated part of the resources of his laboratory to test an idea that today could become a powerful therapy for the treatment of Spinal Muscular Atrophy (AME), a rare disease that is usually fatal in a few years, and that today has few therapeutic possibilities. This work, which has been going on for almost six years, was carried out by a group of specialists from the institute IFIBYNE of the Conicet and the UBA, led by Dr. Alberto Kornblihtt. And its results have just arrived, in the form of paperto the cover of the prestigious magazine Cell. There they summarize a series of tests carried out in-vitro and with animal models (mice). And their conclusions suggest that the current treatment could be improved, and cheaper, if it is combined with other drugs already available on the market.
I loved her It is a very rare neurodegenerative disease.: It is estimated that one case is diagnosed every 10 thousand births. In Argentina, the NGO that “follows” her closely is called FAME and brings together nearly 400 families. directs her vanessa sanchez, whose 9-year-old son suffers from a form of SMA, and who at a press conference explained that “this pathology deteriorates the work of the neurons responsible for movement control. In the most serious cases it affects the possibility of speaking, walking, swallowing and finally breathing. But the FAME association, in addition to striving to offer the maximum care for these children, added an original alternative to its work: it sought to promote basic research on the causes of the disease, with the hope that, one day, these explanations translated into some applicable therapy. And that is what actually happened.
“In 2016 we approached Kornblihtt’s laboratory because he worked on very basic subjects, but they are linked to the final causes of this pathology. And we proposed that he open lines of research related to EMA. In fact, during the official presentation, the renowned molecular biologist explained that the discovery of this “possible new therapeutic mechanism”, which has now been published in the journal Cell, “was based on our basic research over more than 25 years. And the expectation is that it allows us to lay the foundations for a combined therapy that results in a better treatment”.
The cause of this condition is the faulty work of mutated gene: the SMN1 which, in these patients, does not make a certain protein. And the motor neurons are very sensitive to the loss of that protein. One of the few current treatments is to supply the patient with another molecule (ASO) that increases the activity of another gene that functions as “backup” of the defective and compensates, in part, the production of the deficient protein. The discovery of the IFIBYNE team showed that it is possible to improve this option.
It is worth noting that FAME’s request to Kornblihtt went beyond a generic “help us“In fact, they were involved in many of the stages and collaborated with a sum of 300 thousand dollars in laboratory supplies. In that moment, they also received another similar amount from NGOs dedicated to this subject from other countries.
This collaboration was highlighted with visible emotion by Kornblihtt himself who explained that “in 2015 the relatives approached to state that they wanted us to investigate in Argentina, based on the splicing (the subject in which your laboratory specializes) any possible therapy for the disease. I replied that we were not working on this issue and that we had no chance of producing something radical to achieve a cure. And they answered us: “it doesn’t matter, we want them to do basic science in the country and we are going to finance them.” In this way with courage, lucidity and perseverance, They encouraged us to locally investigate the molecular bases of what today seems like a new possible therapy.”.
Science Minister Daniel Filmus, who also participated in the presentation, highlighted some of this: “there is something in Argentine society that is not so common in other countries, and that is that we demand answers to our concerns. This is something very good that we have to take advantage of also on science issues,” he said.
Future
Of course, to achieve the final step in the investigations that, until now, have proven to be successful invite Y in tests with mice, they must pass the controlled studies carried out with children who have the pathology. Justly NEWS asked about this stage and Sánchez replied that “we already have a team of 18 neurologists thinking about designing a protocol to carry out these experiences. They will tell us if, in addition, we should add a laboratory interested in this topic. Of course we would like to much that the trials take place in Argentina”. On the other hand, he explained that his peer associations from other countries (such as CURE SMA, from the USA), are also interested in advancing soon with a testing protocol in children suffering from EMA. And all this is enhanced by thinking of another positive secondary effect that arises from giving continuity to this type of investment in science: from the technology transfer area of Conicet, and in coordination with the Research Secretariat of the Faculty of Exact Sciences of the UBA, an international application for a patent has already been filed that can protect this possible, although still future, combined treatment.
Twitter: @egarabet
Image gallery
