Workshop on rare diseases in Holguín

Rare Diseases World Day – February 28th – leads to the 3rd territorial workshop on these diseases in Holguin at the end of this month.

It is essential the development of this type of scientific activities about these diseases, because at country level the province presents a different frequency of these conditions, with a higher incidence.

Rare diseases, Holguín

Among them with higher prevalence in the territory is Phenylketonuria, with about 12 patients diagnosed mostly in Velasco, municipality of Gibara.

For their attention, there is a provincial consultation and a multidisciplinary team that provides the required attention and treatment, which consists of a dietary supplement that allows the patient to be free of phenylalanine to avoid the consequences and evolution of the disease.

In case of suspicion of the presence of any pathology of this type, or affected families, a clinical follow-up of the different dysmorphies presented by the patient is performed, with an annual follow-up, in the search for clinical findings that help to define and outline its clinical phenotype. Hence, a diagnosis is often made using the clinical method.

The celebration of the III Territorial Workshop on Rare Diseases seeks to encourage scientific exchange among professionals dedicated to the development of Human and Medical Genetics, in order to contribute to scientific improvement.

Rare diseases, Holguín

In general, most genetic diseases are infrequent or rare, because the number of affected people per population is minimal. However, there are specific programs designed by the Government to provide support and help to those who suffer from them, in response to their specific needs.

Therefore, this Workshop aims to influence the continuous improvement of specialized medical services in genetics, provided at both primary and secondary health levels.