New Unit for the Diagnosis of Rare Diseases of the Faculty of Medicine of the UNAM.

We consider that one of the most distressing and stressful situations is that of being ill, or having a family member who has suffered for a long time from an undefined condition, for which doctors cannot find a reason, name, and therefore, no specific treatment.

The generic name that encompasses the more than eight thousand rare diseases registered by the National Institutes of Health of the United States (NIH) is Rare Diseases, some of which affect more than eight million Mexicans. , who do not find diagnosis or relief for their ailments.

“In Mexico, 20 rare diseases are recognized, such as Turner Syndrome, Pompe Disease, Hemophilia, Spina Bifida, Cystic Fibrosis, Histiocytosis, Congenital Hypothyroidism, Phenylketonuria, Galactosemia, Type 1, 2 and 3 Gaucher Disease, Fabry Disease, Congenital Adrenal Hyperplasia, Homocystinuria, among others”. Health Secretary.

That is why the creation of the new Rare Diseases Diagnostic Unit (UDER) is of the utmost importance. of the Faculty of Medicine (FM), located in the Conde de Valenciana Foundation Ophthalmology Institute (non-profit Private Assistance Institution), central headquarters, led by Juan Carlos Zenteno Ruiz, and which stands as a key piece for the identification , classification, and probable treatment of this cluster of atypical conditions.

“The Rare Diseases Diagnostic Unit (UDER), is the first specialized national center, focused on the evaluation and diagnosis of patients with rare diseases, for which it will offer the genetic study that analyzes the 23 thousand genes that make up the human genome, the entire mitochondrial genome will be sequenced, and copy number variations that have recently been seen to be a frequent cause of disease will be reviewed.” UNAM Gazette.

In this regard, the otorhinolaryngologist German Fajardo Dolci, Director of the Faculty of Medicine of the UNAM, declared that the average time for the diagnosis of a disease is approximately eight years, a situation that, as previously mentioned, not only generates a lot of anguish for the patient and his family, but also allows the illness advances and deteriorates the health of the patient, or even deprives him of his life, without a solution being found.

“It is an unexplored area, which has not been given the focus 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 new techniques. of molecular biology and molecular biochemistry. The creation of this Unit dedicated to these techniques is a success, and will contribute significantly both to the dissemination and to the intimate collaboration that we have with the Faculty of Medicine”. Ana Maria Lopez Colome, member of the board of trustees of the Conde de Valenciana Foundation.

For its part, Juan Carlos Zenteno Ruiz, head of the UDER, commented that approximately 80% of rare diseases are of genetic origin, so the experience of the UDER staff in clinical evaluation and in the bioinformatic analysis and interpretation of genetic variants associated with diseases will be decisive. to achieve accurate diagnoses in patients with these conditions.

The World Health Organization (WHO) defines rare diseases as those that occur in fewer than five people per 10,000 inhabitants.

It is worth mentioning that the new Rare Diseases Diagnostic Unit joins the six mixed and service units of UNAM, and it is expected that in the short term it will stand out as a powerful reference in national and international medicine.

In the words of Zenteno Ruiz, The opening of the clinic is important because “there are many rare ailments, eight thousand in total, and in Mexico most of them have no diagnosis and there are no specialized centers where they can occur. So this effort made by the UNAM and the Conde de Valenciana Foundation is aimed at that, at having a space where patients can access quality genetic diagnoses at affordable prices”. Expanding on his comment, the person in charge of the UDER, indicated that the elaboration of a map of the causal genetic mutations of these diseases will begin, and the associated factors such as inbreeding, and consanguinity, among others, will be studied.

During its first stage, the UDER expects to attend to at least a hundred patients until it progressively doubles that number, giving consultation to people with affections of the central nervous system, especially children or young people, since 50% of those who suffer from rare diseases are mostly pediatric population, followed by patients with ocular, cardiac and nephrological affections, according to the words of Vianey Ordonez Labastida, medical geneticist of the Unit.

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