Patients with rare diseases often repeatedly undergo same tests at multiple hospitals to receive a diagnosis.
In addition, rare diseases by nature require examination and treatment from medical professionals of various specialities.
Seoul National University Hospital’s Rare Disease Center provides a collaborative system for patients with various clinical symptoms.
If you wish to book an appointment, please contact the International Healthcare Center.

Organizational chart of the Rare Disease Center's clinic

Department of
Genomic Medicine

Rare Disease Center

Adult Medical Department

Down Syndrome

Muscular Dystrophy

Williams Sydrome

Undiagnosed Disease
Clinic (Adult)

• • •

A Total of 40 adult clinics
(Updated on December 2023)

Pediatric Department

Glycogen Storage
Disease Clinic

Marfan Syndrome

Rare Kidney
disease clinic

Undiagnosed Disease
Clinic (Child)

• • •

A Total of 38 Pediatric clinics
(Updated on December 2023)

Table I : Specialized Clinic for Rare Diseases

No. Clinic List of services provided Team specialist
1 Prenatal diagnosis Congenital malformations requiring genetic counseling, musculoskeletal disorders/neurological disorders, amniotic fluid/chorionic examination, multidisciplinary collaboration Park Joong Shin, Cho Tae-Joon, Chae Jong-Hee
2 Myopathy Multidisciplinary treatment, muscle biopsy, muscle nerve conduction test, genetic test Chae Jong-Hee, Cho Tae-Joon, Kim Gi Beom, Song Mi-Kyoung, Park June Dong, Suh Dong In, Song Mihyun, Shin Chang-Ho, Kim Hyung Min, Seong Moon-Woo, Lee Sang-Yoon
3 Rare Epilepy Genetic epilepsy, familial focal epilepsy, persistent intractable epilepsy, family treatment, confirmation of genetic variation Lim Byung-Chan, Lee Sang Gun
4 Autoimmune Autoimmune encephalitis, anti-NMDA receptor encephalitis, anti-LGI1 encephalitis, paraneoplastic syndrome, etc., immunotherapy medication, symptom controller medication Lee Soon-Tae
5 Genetic Rare Diseases Multidisciplinary treatment, 107 NGS panels for rare diseases, genetic counseling for families Chae Jong-Hee, Ko Jung Min, Moon Jangsup, Kim Manjin, Kim Soo-Yeon, Lee Seungbok, Yoon Jihoon, Jo Dong Hyun, Lee Sang-yeon
6 Genetic endocrine disorders 107 NGS panels for rare diseases Park Kyong Soo, Kwak Soo Heon, Kim Jung Hee
7 Undiagnosed Diseases 107 NGS panels for rare diseases within SNUH, genetic testing for research purposes (WES) Chae Jong-Hee, Moon Jangsup, Kim Soo-Yeon
8 Hereditary cancer syndrome Genetic counseling and family testing, cancer screening for prevention Kim Shee Hyun
9 Interpretation of Cancer NGS gene panels NGS cancer panel test result interpretation (precancer panel, lung cancer panel, brain cancer panel, lymphoma panel) Kim Shee Hyun
10 Genetic counseling Genetic rare diseases, hereditary cancers, familial cancers, prenatal counseling for family planning, screening tests for prenatal/neonatal subjects in case of abnormal screening results, diagnosis of genetic diseases before/after genetic tests Chae Jong-Hee, Ko Jung Min, Moon Jangsup, Kim Manjin, Kim Soo-Yeon, Lee Seungbok, Yoon Jihoon, Jo Dong Hyun, Lee Sang-yeon, Kim Shee Hyun