From November 6 to November 11, 2017, the Center for Pediatrics and Pediatric Surgery underwent further training on the topic "Introduction of new standards for the diagnosis and treatment of rare (orphan) diseases in children in Kazakhstan." 11 participants from Karaganda and Almaty attended the seminar.

Advanced training is designed for additional medical education of a doctor on the introduction of new standards for diagnosis and treatment of rare (orphan) diseases in children in Kazakhstan. The goal of the course is early diagnosis and treatment of Gaucher's disease, mucopolysaccharidosis, cystic fibrosis and primary immunodeficiencies for the timely initiation of pathogenic therapy, which allows reducing the mortality and disability among children from these diseases.

The training was carried out by specialists from the Pediatric Center: Ph.D. Sharipova Mayra Nabimuratovna, Ph.D. Nauryzalieva Shamshagul Tulepovna, Ph.D. Manzhuova Lyazzat Nurbapayevna.

During the course the participants got acquainted with the algorithm of early diagnosis of some rare diseases, visited the departments where children with rare diseases are treated.

The constant technical progress, the introduction of new modern research methods, new technologies and achievements in the treatment of diseases in children require an appropriate improvement in the training of doctors. Rare (orphan) diseases are chronic serious or life-threatening illnesses that can lead to disability, shorten life expectancy. In Kazakhstan, as well as in Russia, diseases with a prevalence of not more than 1 case per 10,000 people are considered rare.

For today more than 7000 kinds of rare diseases are known and constantly this list is replenished. Most of them are genetic diseases, but among rare diseases there are diseases of an infectious, autoimmune or toxic nature. Unfortunately, the causes of many orthopedic diseases remain unknown. Symptoms of such diseases can occur both from the day of birth, and at a later age. Often remaining unrecognized, these diseases can occur under the masks of various severe conditions, and the overwhelming majority of them die under false diagnoses.

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