News & Interviews
Check out the latest news & interviews from the SNUH RDC.
SNUH Rare Disease Center
As an institution specializing in rare diseases, we promise to provide patient-centered care services and work to make the hospital safe and high-quality through constant research and effort.
Treatment access for spinal muscular atrophy (SMA) in Korea remains constrained by structural barriers even as disease-modifying therapies become more widely available.
A patient and his family, who had suffered from unexplained immunodeficiency, developmental disorders, and lymphoma for 16 years, have finally found the genetic cause.
Lysosomal Storage Disease (LSD) is a rare disorder characterized by a deficiency or malfunction of lysosomal enzymes, which act as “intracellular scavengers,” leading to the accumulation of harmful substances and eventually to organ damage.
A Korean research team has proposed a new treatment strategy that could improve treatment effectiveness for Duchenne muscular dystrophy (DMD), a rare inherited disease for which steroid treatment is the standard of care.
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.
On Tuesday, Seoul National University Hospital announced that a collaborative research team ...