There is a large group of pathologies that form part of a special category: the few little nurses, también conocidas como enfermedades raras o huérfanas.
They have as much as a common denominator, less than 1 in 2,000 people. Therefore, rare diseases are discontinued by the Mayor of Health and Professional People and are rarely among the central objectives of public policy, except that they are characterized by pregnancy, diagnostic complex and car bodies.
Prohibition of sin, son un gravitante theme and salud. International registries consider a total of 8,000 pathologies in this classification, which in some cases affect at least 8% of the population.
“In Chile, it is equivalent to looking at a million people in the vastness of its life, or sea, potentially representing diez more than patients with cancer; but it’s a topic that has been on the radar of health priorities, ”she said. doctora Gabriela Repetto,
geneticist of the German Clinic.
Some 80% of the most frequent nurses have a genetic origin, due to the fact that the new genomic tools available in the last fifty years have increased the detection capacity and the ability to orient therapies that contribute to more and more expert knowledge.
In addition to these important advances in diagnostic material, there are some bridges that represent major obstacles for patients who suffer from some rare disease. “Finding the cause of these strains involves a huge amount of disgust for them and their families, many of the bullets can be repelled by others in what we call the diagnostic odor,” the specialist indicated.
In this challenge, Clinique Alemana seeks to address the issue that “most children in these conditions and their parents can read a diagnosis in less time. These are thanks to the most sophisticated genomic study tools and our joint work with the Faculty of Medicine to carry out an applied investigation, with more innovative miracles, ”reports Repetto doctor.
Hitos in investigation
A team of German Clinic physicians and faculty investigators is working to conduct deep genetic studies, examinations performed and associated with bioinformatics analysis, as well as to improve diagnostics. He evaluated 40 children and adolescents with intellectual disability and congenital anomalies, logging on to identify the genetic cause of their condition in the midst of them,
Niños, los principales afectados
Although the lack of a register regarding rare diseases does not allow to have an exact panorama in our country, it is estimated that the number of affected by them corresponds to nine. “Hecho, the second cause of death in the first year of life is his congenital malformations, which in his majority are only slightly more frequent infections,” indicates the doctor Repetto.
The most recognizable pathologies
In Chile, people who suffer from some illness are often receiving supportive care to improve their diagnosis and access to care. This is the case of cystic fibrosis and hemophilia – both with GES coverage – as with metabolic disorders: the lisosomal deposits, including the Ley Ricarte Soto, and the phenylcetonuria. This is the latest, with a detection program applied to all the recently reviewed.
Support for exam development
A sample of the efforts to advance in the knowledge of these transactions is the agreement between Clinique Alemana y Biosoluciones-UDD. This laboratory has been installed genetic test for more than 20 little nurses we know more, with which “we can bring the best diagnostic and effective therapies”, hey.