Explore the promise of oral SMA therapy and the treatment access gap between Korea and Japan. Despite the importance of early diagnosis, Korean families face rigid reimbursement barriers. Read the expert interview on overcoming structural challenges to improve spinal muscular atrophy care.

SNUH researchers identify the link between BRF2 gene mutations and rare diseases for the first time. Learn how this breakthrough offers answers to patients with undiagnosed immunodeficiency and developmental disorders, elucidating the pathogenesis of cellular homeostasis. Explore the details of this pioneering genomic study.

Ending the 'Diagnostic Odyssey' for Lysosomal Storage Disease (LSD) in Korea. Learn about the impact of early detection, advanced genomic diagnostics at SNUH, and the expansion of newborn screening coverage. Discover how Korea is shortening the diagnostic journey for rare diseases like Pompe and Gaucher.

SNUH researchers propose a breakthrough strategy for Duchenne muscular dystrophy (DMD) by combining EZH2 inhibitors with steroids. Discover how targeting the EZH2 gene reduces muscle fibrosis and inflammation, potentially maximizing efficacy while minimizing side effects for DMD patients. Learn more about this innovative genomic study.

Patients and families with rare genetic disorders, and people who have not developed a rare genetic disorder but carry a gene mutation, often give up trying to have a child.

The Child Cancer & Rare Disease Project of Seoul National University Hospital (SNUH) announced on September 10 ...

A Korean research team has identified a gene mutation that causes neurodevelopmental disorders, including low intelligence and developmental delay.