The head of the UDER and the Conde de Valenciana Foundation Research Unit, Juan Carlos Zenteno Ruiz, reported that this newly opened research site, located at the Conde de Valenciana Private Assistance Foundation Center headquarters, offers diagnostic accurate and hopes to expand the registry of these conditions: the Ministry of Health reports 20 in the country and it is known that there are eight thousand in the world.
In a remote press conference, the doctor highlighted that patients who have been seeking a diagnosis for years can access the website: saludraras.facmed.unam.mx to request an appointment, since one of its main objectives is to prevent unnecessary complications for them. .
Of all the rare diseases that are known in the world, he added, it is known that only five percent have a treatment at this time. “A diagnosis is not synonymous with treatment, but it is synonymous with an improvement in the patient’s quality of life because if there are no drugs to help him, we already know what the disease is and, without a doubt, we will be able to generate a surveillance and follow-up plan that impact it positively.”
The FM academic also recalled that due to their low prevalence, most doctors require more training to detect them. “One of the objectives of this project is to incorporate workshops, subjects, and activities related to rare diseases into the curricula, not only in undergraduate but also in postgraduate studies, and make them visible, because there is little knowledge that exists in medical terms. of them, it is something that can change and this would be an important step to change it”.
In turn, the head of the Research Subdivision of that academic entity, Rosa María Wong Chew, highlighted: this unit is the only one of its kind in our country, it is added to the six that the Faculty of Medicine has and that offer service to the community, with affordable prices to support society and the most needy sectors.
“It serves an important need of the population and of our nation, therefore, we make the Unit available to the general public, geneticists and patients, so that they can use its services, in addition to collaborating in research and teaching, fundamental pillars of the mixed units of the University”, he stated.
Novel evaluation techniques
At the opening ceremony, the director of the FM, Germán Fajardo Dolci, explained that approximately eight thousand of these types of diseases are known, such as: hemophilia, albinism, cystic fibrosis, galactosemia and mucopolysaccharidosis, which affect eight million people in our country, according to figures from the Ministry of Health.
“Everything we can do as a country, and what we can do from academic institutions and private assistance institutions, as is the case with this union, will undoubtedly help to continue strengthening our mission as a University and as an institute, which is to help as many people as possible in training, research and assistance”, commented the specialist in Otorhinolaryngology, who presided over the event.
The head of the Research Division of that academic entity, Paz María Salazar Schettino, said that the new headquarters joins the six mixed and service units of the University that offer services to the social, public and private sectors that attend to aspects of national problems, linking research projects with the needs of the industry and the requirements of society.
“I fully trust that the Rare Diseases Diagnostic Unit will be a benchmark in national and international medicine, which in addition to fulfilling its social purpose will increase the high level of teaching and research that distinguishes us,” said the specialist.
Meanwhile, the Medical Director of the Conde de Valenciana Foundation Ophthalmology Institute, David Lozano Rechy, pointed out that since its creation the Foundation has made it a priority to care for people who suffer from sight, regardless of their socioeconomic status, to train specialists and, above all, find answers to the behavior of diseases and their mechanisms of action to offer treatments that help improve the lives of patients.
Ana María López Colomé, a member of the Foundation’s Board of Trustees, agreed with him, adding that in order to try to resolve the origin of so-called rare diseases, novel techniques such as molecular biochemistry are required, the use of which in the UNAM Unit will be a watershed. in the field and its results will have an impact in Mexico and the world.
“It seems to me that it is an unexplored field, which has not been given an approach of the importance it should have and the only way we know so far to solve the problem, the dilemma of why, how and who they attack, is the application of the new techniques of molecular biology and molecular biochemistry. The creation of this unit, which is dedicated to these techniques, is a success and will contribute significantly both to the diffusion and to the intimate collaboration that we have with the Faculty of Medicine”, he specified.
In the first phase of the UDER, it is expected to serve at least 100 patients and later double the number. Cases with affectations in the central nervous system are expected, especially children or young people, since 50 percent of those who suffer from rare diseases are the pediatric population, followed by people with eye, cardiac and nephrological affections, explained Vianey Ordoñez Labastida, a medical geneticist at the Unit.
They are conditions “that can present with intellectual disability, developmental delay, multiple malformations such as the heart not having developed correctly, or the intestinal system, we hope.” The Unit has highly trained personnel and experts to translate computational data into biological data, which ensures that the diagnosis is accurate, in addition to offering comprehensive assistance to patients and their families on medical management, since the information allows knowing if the person can access specific treatment, he explained.