On February 7, 2025, a masterclass on rare (orphan) diseases in pediatric neurology was held at the Regional Children's Hospital in Atyrau. The event was supported by Pharm&Access and brought together leading specialists from various regions of Kazakhstan, who presented reports on key aspects of diagnosing and treating these conditions.

Key topics of the event:

• Alpha-Mannosidosis – current knowledge about the disease, its clinical manifestations, and differential diagnosis.
• Duchenne Muscular Dystrophy – from diagnosis to treatment, clinical cases, and exon-skipping therapy applications .

During the meeting, specialists discussed modern therapeutic approaches, clinical cases, and shared their experiences in treating patients with rare diseases. The event served as an important platform for professional development and improving the quality of medical care for children with neurological disorders.

#rarediseasecompanykazakhstan #businessdevelopmentinkazakhstan #PharmandAccess #CentralAsia #SareptaTherapeutics #orphandiseasepatientsinKazakhstan #orphanpharmaceuticalcompanyinKazakhstan #rarediseasepatientsinCentralAsia #orphanpharmacompany