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Nueva Unidad de Diagnóstico de Enfermedades Raras de la Facultad de Medicina de la UNAM.

New Rare Disease Diagnostic Unit at Onam University Medical School.

We think that one of the most distressing and anxious situations is being sick, or having a family member who has suffered from an unspecified condition for a long time, for which doctors cannot find a cause or a name, and therefore, there is no definitive treatment.

The generic name that includes more than eight thousand rare diseases registered by the United States National Institutes of Health (NIH) is Rare Diseases, some of which affect more than eight million Mexicans. diseases.

In Mexico, 20 rare diseases have been identified, such as Turner syndrome, Pompe disease, hemophilia, spina bifida, cystic fibrosis, histiocytosis, congenital hypothyroidism, phenylketonuria, galactosemia, types 1, 2 and 3 Gaucher disease, and Fabry disease, congenital adrenal hyperplasia, homocystinuria, among others.” Minister of Health.

This is why the creation of the new Rare Disease Diagnostic Unit (UDER) is so important. The Faculty of Medicine (FM), located in the Conde de Valenciana Foundation Ophthalmology Institute, central headquarters, led by Juan Carlos Zentino Ruiz, which is a key element in the identification, classification, and potential treatment of this group of atypical conditions .

“The Diagnostic Unit of Rare Diseases (UDER), is the first national specialized center, focused on the evaluation and diagnosis of patients with rare diseases, where it will present the genetic study that analyzes the 23,000 genes that make up the human genome, the entire mitochondrial genome will be sequenced, and the differences in the Copy number recently seen as a frequent cause of disease.” UNAM Newspaper.

In this regard, ENT doctor German Fajardo Dolce, The Director of the United Nations University School of Medicine stated that the average time to diagnose the disease is approximately eight years, a situation that, as mentioned earlier, not only generates a lot of distress for the patient and his family, but also allows the disease to progress and deteriorate the patient’s health or even deprive him of his life without finding a solution.

“It is an unexplored area, which has not been given the focus that it should be, and the only way we know so far to solve the problem, the dilemma of why, how and who to attack, is to apply new technologies. Molecular biology and molecular biochemistry. The creation of this unit dedicated to these technologies It is a success and will contribute significantly to both the publication and the close collaboration between us and the College of Medicine.” Anna Maria Lopez Colom, Member of the Board of Trustees of the Conde de Valenciana Foundation.

for this part, Juan Carlos Zentino Ruiz, UDER President, commented that approximately 80% of rare diseases are of genetic origin, so the expertise of UDER staff in clinical assessment and in bioinformatic analysis and interpretation of disease-associated genetic variants will be crucial. To achieve an accurate diagnosis in patients with these conditions.

World Health Organization (WHO) Rare diseases are defined as those occurring in fewer than five people per 10,000 population.

Notably, the new Rare Disease Diagnostic Unit joins UNAM’s six hybrid and service units, and in the short term is expected to emerge as a strong reference in national and international medicine.

Vitality arrived Zentino Ruiz, The opening of the clinic is important because “there are many rare diseases, eight thousand in total, and most of them in Mexico do not have a diagnosis and there are no specialized centers in which they can occur. So this effort by UNAM and the Conde de Valenciana aims to provide a space where patients can Access to affordable, high-quality genetic diagnostics.” Expanding on his comment, the person in charge of the UDER noted, that a mapping of the causal genetic mutations for these diseases would begin, and associated factors such as inbreeding, uterine consanguinity, among others, would be studied.

During its first phase, UDER expects to care for at least a hundred patients until that number gradually doubles, and counsels people with central nervous system problems, especially children or young adults, as 50% of those are rare. Diseases are mostly focused on children, followed by patients with eye, heart and kidney disorders, according to the words Viani Ordonez Labastida, Medical genetics of the unit.

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