Holguín: III Territorial Workshop on Rare Diseases convened
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- Published in Holguin
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The Holguín chapter of the Cuban Society of Human and Medical Genetics calls for the III Territorial Workshop on Rare Diseases to take place from February 22 to 29 next year.
The event, in virtual and in-person - mixed mode, will promote the link between different specialties in order to contribute to the improvement of diagnosis, advice and treatment services for patients with rare diseases of genetic etiology from primary and secondary health care.
The World Health Organization (WHO) identifies rare diseases (RD) as those that occur in less than five patients per 10 thousand inhabitants, of which more than seven thousand have been described.
To raise awareness about rare conditions and achieve priority attention for people who suffer from them, the WHO established February 29 to influence these ailments with concrete health actions and achieve the participation of social organizations, families and the population in general.
According to the Provincial Center of Medical Genetics in Holguín, there is a record of about 15 RD in the territory, among them Coffi Lowry Syndrome, Cohen Syndrome, Generalized Lipodystrophy, Frequent Craniosynostosis, Congenital Adrenal Hyperplasia, Ectodermal Dysplasia, Hyperphenylalaninemia, Arthrogryposis Multiplex Congenita and Usher Syndrome, among others.
The most prevalent in Holguín and the country is Spinocerebellar Ataxia Type 2, whose prevalence and incidence rates have not been surpassed by any other nation on an international scale. (With information from Infomed)