The Third Territorial Workshop on Rare Diseases was held in the city of Holguin until February 29, with national scope and international involvement with the participation of national specialists and experts in Clinical Genetics and Prenatal Diagnosis from five Cuban provinces and the participation of professors of Molecular Biology and Medical Genetics from universities in Spain and Angola.
This date was chosen for the celebration of the event, due to the International Day for Rare Diseases, celebrated every February 29 in leap years and in non-leap years on February 28, in order to raise awareness among health institutions, families and the population in general, about the importance of diagnosis, follow-up and timely treatment of people with this type of diseases.
According to the head of the Chair of Medical Genetics of the University of Medical Sciences of Holguin (UCMHo), Dr. Victor Jesus Tamayo Chang, “since the 27th of this month this event, corresponding to the year 2024, was held at the Provincial Pediatric Hospital Octavio de la Concepcion y de la Pedraja and at the University of Medical Sciences of Holguin. We have had participation with more than 60 works of Genetics specialists, genetic counselors, residents from all over the country and professionals of related specialties”.
In the closing session, two plenary sessions were developed; one dedicated to the diagnosis, treatment and prevention of rare diseases and the other one to the prenatal diagnosis of genetic diseases, due to the coincidence with the I Workshop of Ultrasonographic Prenatal Diagnosis, which counted with the participation of experts in the matter, from all the eastern provinces.
In the province of Holguin the behavior of these diseases is different from the rest of the country and the world, due to the socio-demographic characteristics of the region.
For this reason, the UCMHo assistant professor said that in the territory there is a series of diseases whose prevalence is the highest, even at world level. Among the best known are some hereditary metabolic disorders such as Fucosidosis, Phenylketonuria and some lysosomal storage diseases. Generalized skin diseases have also been diagnosed, such as ectodermal dysplasias, hypthyosis and generalized bone tissue diseases, among which skeletal dysplasias stand out. Several diseases have been diagnosed that have a neurological repercussion and, therefore, a repercussion from the psychological point of view for patients and their families.
Holguin has peculiar characteristics, for example, with Fucosidosis 130 patients have been diagnosed worldwide, 19 of them are from Holguin province. This implies that this is the region of the world with the highest prevalence of Fucosidosis.
Regarding the relevance of this type of meetings, commented the also second degree specialist in Clinical Genetics of the Provincial Center of Medical Genetics of Holguin, “it is extremely important for us the development of these events, because these are diseases that currently suffer more than 60 million people in the world, although with a low prevalence, they reach great clinical repercussion for the patients and in the morbi-mortality in all the stages of life”.
Precisely because these are diseases of which little is known, due to their low prevalence, it is relevant for the professionals in charge of this care, from the medical and social point of view, due to the importance of their reintegration.
The purpose of this workshop is to raise awareness among institutions, organizations and the family, in general, about the importance of timely diagnosis, follow-up and reintegration of people with rare diseases into society.
- Birth of triplets in Holguin, the miracle of multiplied life - 28 de April de 2024
- In Holguin health sector rejoices as May Day nears - 26 de April de 2024
- Microbiology Lab of Holguin Pediatric Hospital will work again - 24 de April de 2024