On June 1, the Republican Center for Orphan Diseases (RCD) started working on the basis of the University Medical Center corporate foundation. The opening of the Center was attended by Minister of Health Akmaral Alnazarova, Commissioner for the Rights of the Child in the Republic of Kazakhstan Dinara Zakieva, Vice President - Dean of the Nazarbayev University School of Medicine Massimo Pignatelli, Chairman of the Board of UMC Yuri Pya, as well as invited experts.
The RCOZ will become a focal point for the diagnosis, treatment and evaluation of long-term results of therapy for rare diseases. The main goal of the center is to improve medical care and the quality of life of patients with rare diseases.
"The creation of the RCZ will eliminate a fragmented approach to the diagnosis and treatment of orphan diseases and ensure coordinated efforts by the medical community to improve the availability of highly specialized care, search for effective treatment methods and develop diagnostic systems," said Minister of Health Akmaral Alnazarova.
As part of the opening of the RCZ, the Minister visited children with orphan diseases receiving treatment at UMC and congratulated them on Children's Day and wished them a speedy recovery.
In recent years, there has been a positive trend in the early diagnosis of hereditary diseases. Today, only 12,948 children with orphan diseases are registered, of which 7239 cases are diseases of the central and peripheral nervous system.
With the development of medical science, the emergence of new knowledge on the etiology and pathogenesis of diseases, new medicines, new technologies are being developed for patients with orphan diseases, and more effective types of screenings and diagnostics are being introduced in general. Therefore, today it is important to integrate the results of scientific research with clinical medicine, the capabilities of hospital infrastructure, and the training of specialists in this area.
The main tasks of the RCOZ:
1. Comprehensive diagnostics will make it possible to shorten the patient's path as much as possible from the moment the first symptoms appear to the diagnosis.

2. Monitoring and evaluation of the effectiveness of therapy: The RCOZ will constantly monitor the treatment of orphan diseases, which will allow to evaluate the effectiveness of the therapy and adjust it if necessary.
3. Comprehensive approach to treatment: The Center will implement a multidisciplinary approach to the treatment of patients with orphan diseases, followed by the organization of a rehabilitation program, which is especially important for improving the quality of life of children with rare diseases.
4. Training and advanced training of doctors: The Center will become a platform for training and advanced training of specialists in rare diseases, which will expand the knowledge of medical professionals.
5. Unified electronic register: It is planned to create a unified electronic register of patients with orphan diseases, which will simplify the process of accounting, monitoring the condition of patients and planning drug provision.
Thus, the RCOS will play a key role in coordinating efforts to diagnose and treat rare diseases at the national level, providing patients with access to the latest treatments and support. The opening of the center will be an important step in integrating a systematic approach to solving the problems of orphan diseases and improving the quality of life of patients in Kazakhstan.
Source: Ministry of Health of the Republic of Kazakhstan