University discusses care for patients with achondroplasia

University discusses care for patients with achondroplasia

University discusses care for patients with achondroplasia

Sharmanov National Medical University hosted an international panel session entitled “From Equality to Equity” to mark World Achondroplasia Awareness Day. The event was organised jointly with the “Маленький мир” (“Little World”) community — malenkiimir.achondroplasia.kz.

Participants discussed modern approaches to diagnosing and treating rare diseases, interdisciplinary collaboration, and patients’ quality of life. Particular attention was paid to equity in healthcare: alongside equal access to medical care, it is essential to address each patient’s individual needs.

The topic also has scientific and practical significance for the university. Research into skeletal dysplasias was conducted as part of the Department of Paediatric Surgery’s scientific and technical programme under the supervision of Professor B. A. Dosanov. The work resulted in a patent, scientific publications, and a patient management algorithm. Dozens of patients now receive treatment in Kazakhstan, having previously had to seek care abroad. The next milestone will be the defence of a PhD dissertation.

This experience demonstrates how applied research findings translate into clinical practice and help address patients’ specific needs. The panel discussion highlighted the importance of bringing together researchers, clinicians, and the patient community to develop accessible care that responds to the needs of people living with rare diseases.

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