Kazakhstan is the first CIS country to establish a national coordination center for rare diseases

The Republican Center for Coordination of Orphan Diseases was officially opened on June 1, 2024, Children's Day. The center was established (April 2024) by the order of the Minister of Health of the Republic of Kazakhstan and was created on the basis of the University Medical Center (UMC) corporate fund, which unites the leading republican clinics:

• National Scientific Center for Maternal and Child Health
• Heart Center
• Republican Diagnostic Center

UMC is the clinical and educational base of Nazarbayev University.

Head of the center is Ernas Tleutaevich Tuleutayev, MD, Deputy Chairman of the Expert Council on Orphan Diseases under the Ministry of Health of the Republic of Kazakhstan.

Key areas of work:

• Coordination of highly specialized care for patients with orphan diseases
• Organization and methodological support of the work of specialized expert committees
• Development of patient routing and drug supply algorithms
• Participation in digitalization and registry support
• Interaction with patient organizations
• Educational and outreach work in the regions
• Psychological and social support for families

The Center integrates work on adult and pediatric orphan pathology, rehabilitation and palliative care.

 Expert committees:

• 17 specialized expert committees have been created, covering the main areas of orphan pathology
• The committees work on unified clinical and organizational algorithms, ensuring the validity of the appointment of expensive therapy
• All conclusions are generated in the secure digital system iDocs, signed with an electronic digital signature and available for analysis in PDF format
• The work of individual committees (for example, on pediatric neurology) made it possible to identify systemic problems, including a lack of multidisciplinary teams and palliative care in the regions

Digital analytics and registries:

• For 2024: 87,151 patients, including 21,710 children
• A module for monitoring the effectiveness of therapy and dashboards have been introduced, providing data visualization and communication with government systems
• Integration with the Unified Data Warehouse (UDW) of the Ministry of Health is underway, which will ensure continuous monitoring of patients across the country

Working with patient organizations:

• Regular interaction has been established with 24 patient organizations
• Quarterly meetings and live broadcasts are held to discuss key issues: drug provision, disability, access to dental and surgical care
• A separate area has become cooperation with the Ministry of Labor on issues of disability status and social support for patients

Education and infrastructure: