Greetings

We sincerely welcome you to the Seoul National University Hospital Rare Disease Center website.
The Seoul National University Hospital Rare Disease Center opened in May 2011, established a systematic rare disease patient care system, started patient care through multidisciplinary cooperation, and has been making efforts as the last bastion of rare disease treatment in Korea.

Based on clinical and research experience and competency that led the first rare disease research group in 2012, the Ministry of Health and Welfare and the Center for Disease Control and Prevention started a research project called the ‘Undiagnosed Rare Disease Diagnosis Research Project’ since 2017. This is a program that discovers new diseases or disease mechanisms through genomic analysis and cell function research, and makes accurate diagnosis in patients whose cause or disease name is unknown even after repeating various genetic and clinical examinations. In addition, we continue to make efforts to develop new treatments by not only accurately diagnosing undiagnosed diseases, but also researching the mechanism of occurrence of rare diseases. This research is the foundation that leads not only to the diagnosis of new rare diseases, but also to treatment through international research collaboration and cooperation.

In addition, the Ministry of Health and Welfare has expanded the designation of a comprehensive management plan for rare diseases and its support policies to diagnose rare diseases and designate a base center for each region. Seoul National University Hospital has been conducting genetic diagnosis support projects nationwide since 2016, and has been selected as a “Coordinating Center for Korean Rare Diseases” since 2019, and has carrried out that mission to date. To improve medical accessibility of patients with rare diseases and to strengthen the link between diagnosis, treatment, and management, a regional hub center and network were established to resolve the issue of disparity between metropolitan areas and other regions. These will continue to play a role in strengthening support for patients living in non-metropolitan areas, allowing them easier access to timely diagnosis and treatment.

Seoul National University Hospital’s Center for Rare Diseases is a national central hospital that fulfills its mission as a National University Hospital, working along with regional base centers that treat rare diseases to provide treatment and research for patients with rare diseases to receive better care through rapid diagnosis. And we will continue to grow and expand even more henceforth.

Thank you.