In the modern world, the concept of orphan (rare) diseases is attracting more and more attention. Orphan diseases are those that, as a rule, are of a genetic nature, detected with low frequency, life-threatening or steadily progressing pathologies that, if left untreated, can cause death or lead to disability. Recently, new genetic concepts for preventing the occurrence of such diseases have been formulated throughout the world, and diagnostic and treatment methods have been developed. Medical support for such diseases represents a significant economic problem for any state.

Considering the urgency of the problem, on the eve of February 29 – International Day of Rare Diseases, employees of the Department of AFP in Semey: head. department, professor Dyusupova A.A., teachers Belyaeva T.M., Kamasheva G.T., Faizova R.I., Terekhova T.I., Khismetova A.M. together with interns of the 603rd group of GPs, a lesson was organized and conducted at the School of Preventive Medicine with GP interns of 6 and 7 years, doctors and teachers on the topic “Orphan diseases in the practice of a family doctor”, during which the issues of the prevalence of rare diseases in the Republic of Kazakhstan, features clinical course of progeria and cystic fibrosis, the feasibility of conducting wider screening for congenital and hereditary metabolic diseases in the neonatal period is emphasized, which will speed up the necessary therapeutic and diagnostic measures, improve the prognosis and, in the vast majority of cases, will prevent severe disability of sick children. The topic of the lesson aroused keen interest among those present, which was confirmed by a quiz held at the end with vitamin prizes.[/vc_column_text]