The Holguin Chapter of the Cuban Society of Human and Medical Genetics convenes the III Territorial Workshop on Rare Diseases to be held from February 22 to 29 next year.
The event, in mixed modality -virtual and face-to-face- will promote the link between different specialties in order to contribute to the continuous improvement of diagnostic services, counseling and treatment of patients with rare diseases of genetic etiology from primary and secondary health care.
This new edition of the Territorial Workshop on Rare Diseases aims at facilitating the training and updating of knowledge on these low prevalence and impact diseases in the health and social fields.
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.
In order to raise awareness about rare diseases and to achieve priority attention to the people who suffer from them, the WHO established February 29th as a day to influence these ailments with concrete health actions and to achieve the participation of social organizations, family members and the population in general.
According to the Provincial Center of Medical Genetics in Holguin there is a registry of about 15 RD in the territory, among them Coffi Lowry Syndrome, Cohen Syndrome, Generalized Lipodystrophy, Frequent Craniosynostosis, Congenital Adrenal Hyperplasia, Ectodermal Dysplasia, Hyperphenylalaninemia, Multiple Congenital Arthrogryposis and Usher Syndrome, among others.
The most prevalent in Holguin and the country is Spinocerebellar Ataxia Type 2, whose prevalence and incidence rates have not been surpassed by any other nation worldwide.
With information from Infomed Holguín / Translated by Radio Angulo
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