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From June 26 to July 1, 2017, the first training module for regional coordinators for rare diseases "Implementation of new standards for diagnosis and treatment of rare (orphan) diseases in children" was held. 18 specialists from the regions were trained.

 

The program of the module included: discussion of the functional responsibilities of the regional coordinators, familiarization with the algorithms of early diagnosis of rare diseases, the route of the patient from the level of polyclinics to the Republican centers, maps of dynamic observation of patients with rare diseases, and also recommendations on the calculation of drugs for the treatment of rare diseases.

 

Within the framework of the module, lectures were given on the following topics: rare diseases in children (bulezed epidermolysis, imperfect osteogenesis, ichthyosis, etc.), metabolic diseases, Gauchers disease, mucopolysaccharidosis, cystic fibrosis, primary immunodeficiencies.

 

Regional coordinators got acquainted with the clinic of the center and with the Center of Orphan Diseases in Almaty.

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