From February 27 to March 1, 2025, the Republican Conference on Rare Diseases with international participation took place in Astana. The event brought together leading experts, researchers, and medical professionals to discuss the latest advancements in the diagnosis, treatment, and management of rare diseases.

The conference program included plenary sessions, expert discussions, and presentations on cutting-edge research and innovative therapies. Participants explored the role of genetic studies, modern treatment methods, and the importance of a multidisciplinary approach in improving patient outcomes.

Key presentations covered a range of critical topics, including:

• The application of exon-skipping therapy for Duchenne muscular dystrophy, based on the experience of Children's City Hospital #2 in Almaty.
• Advances in the continuity of therapy for lipodystrophy.
• The latest research on homozygous familial hypercholesterolemia.
• New treatment approaches for epidermolysis bullosa.
• Insights into the etiology, pathogenesis, and treatment of alpha-mannosidosis.

The conference served as a vital platform for knowledge exchange and the enhancement of rare disease care in Kazakhstan.

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