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Current Status of Rare Disease and Its Treatment
Despite 50,000 new rare disease diagnoses each year, at least one million patients remain undiagnosed or undefined.
Overview of Rare Diseases
300M
The number of rare disease patients worldwide is approximately 300 million.
Around 80%
Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood
10,000+
The number of rare diseases identified so far exceeds 7,000
About 95%
about 95% lack approved treatments, the average time for an accurate diagnosis is 4-8 years
Source
· http://intuitionlabs.ai/articles/rere-disease-landscape-2025
· RARE Disease Facts·Global Genes
Major international Standards for Rare Disease Classification
| Country / Organization | Summary of definition | Patient per 100,000 individuals | Patient population cap |
|---|---|---|---|
| WHO | Rare disease: A disease or condition that affects 0.65 to 1 out of 1000 residents. | 6.5 ~ 10 | - |
| US | Rare disease and disorders are those which affect small patient populations, typically populations smaller than 200,000 individuals in the US. | 6.4 | 200,000 |
| EU | Rare diseases are diseases with a particularly low prevalence; the European Union considers diseases to be rare when they affect not more than 5 per 10,000 persons in the European Union. | 5 | 185,000 |
| Korea | Rare disease: A disease with less than 20,000 patients or one that is difficult to diagnose and as such impossible to define the exact number of patients. | 4.25 | 20,000 |
1,314 Disease
As of 2024, there are 1,248 rare diseases designated and managed in Korea.
<Designation Status>
(’18) 926 → (’19) 1,014 → (’20) 1,086 → (’21) 1,123 → (’22) 1,165 → (’23) 1,248 → (’24) 1,314
16.4%
16.4% of rare disease patients in Korea visit more than four hospitals before receiving a final dia
60-69
more than 50,000 rare disease patients are reported annually in Korea, and over 20% them are in their 60s
About 52%
the number of patients in the metropolitan area accounts for 52% of the total.
Annual Statistics on Rare Diseases at Seoul National University Hospital (SNUH)
Proportion of Rare Disease Patients Treated at SNUH (2019–2024)
Statistics on Visits by Rare Disease Patients at SNUH
Visit Statistics by Korean Standard Classification of Diseases and Causes of Death (KCD)
| Disease Classification Code | Korean Standard Classification of Diseases, 8th Revision (KDC-8) | Patient visit rate | Disease count rate |
|---|---|---|---|
| Q00-Q99 | Congenital malformations, deformations and chromosomal abnormalities | 29.62% | 31.21% |
| M00-M99 | Diseases of the musculokeletal system and connective tissue | 20.19% | 16.22% |
| G00-G99 | Diseases of the nervous system | 18.81% | 12.53% |
| I00-I99 | Diseases of the circulatory system | 8.20% | 11.50% |
| K00-K93 | Diseases of the digestive system | 6.42% | 10.47% |
| D50-D89 | Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | 6.01% | 4.31 |
| E00-E90 | Endocrine, nutritional and metabolic diseases | 5.05% | 3.49% |
| J00-J99 | Diseases of the respiratory system | 2.52% | 2.87% |
| H00-H59 | Diseases of the eye and adnexa | 1.68% | 2.46% |
| L00-L99 | Diseases of the skin and subcutaneous tissue | 0.47% | 1.44% |
| F00-F99 | Mental and behavioural disorders | 0.46% | 1.23% |
| N00-N99 | Diseases of the genitourinary system | 0.33% | 0.82% |
| C00-D48 | Neoplasms | 0.14% | 0.82% |
| A00-B99 | Certain infectious and parasitic diseases | 0.11% | 0.82% |
2023 International Rare Disease Patients by Registered Address
| Rare diseases with high visit rates among foreign patients (primary diagnosis) | |
|---|---|
| Autosomal dominant polycytic kidney disease | 4.16% |
| Crohn's disease of both small and large intestine | 3.83% |
| Moyamoya disease | 3.83% |
| Sjorgen's syndrome | 2.62% |
| Cerebellar ataxia | 2.42% |
| Dilated cardiomyopathy | 2.08% |
| Juvenile idiopathic arthritis | 2.08% |
| Autoimmune encephalitis | 1.88% |
| Idiopathic pulmonary fibrosis | 1.88% |
| Sporadic amyotrophic lateral sclerosis | 1.88% |
| Autoimmune hepatitis | 1.81% |
| Top 10 Foreign Patient Inflow Rates | |
|---|---|
| China | 35.83% |
| United States of America | 15.06% |
| United Arab Emirates | 10.65% |
| Mongolia | 8.14% |
| Russia | 4.68% |
| Australia | 4.68% |
| Vietnam | 2.77% |
| Kazakhstan | 2.44% |
| Canada | 1.91% |
| Philippines | 1.85% |
・Patients with rare disease diagnoses were identified based on their registered residential address.
・In 2023, patients with rare disease diagnoses visited from 51 countries.
・Among rare diseases, autosomaldominant polycystic kidney disease, Crohn’s disease of the small and large intestine, and moyamoya disease showed the highest proportions of visits
Home » Rare Disease »
Current Status of Rare Disease and Its Treatment
Despite 50,000 new rare disease diagnoses each year, at least one million patients remain undiagnosed or undefined.
Status of Patients with Rare Diseases in Korea
According to the published statistics on the incidence of rare diseases, more than about 50,000 new patients are diagnosed each year (as of 2021). However, it is estimated that at least one million patients are suffering from rare diseases that have not yet been defined by modern science or are undiagnosed due to economic reasons.
Diagnosis and Treatment of Rare Disease
Rare diseases are difficult to diagnose due to the lack of relevant information and experts. Moreover, during early stages, symptoms may be absent, misunderstood, or confused with other diseases.
As a result, some patients with rare diseases (14.72%) took more than 3 years to be diagnosed, and 16.4% were reported to have visited 4 or more hospitals before receiving their final diagnosis.
In particular, patients with ultra-rare diseases often have similar symptoms and may go through numerous medical institutions for a correct diagnosis, leaving them with financial and emotional burden.
Since most rare diseases are genetic diseases, diagnosis is made by clinical findings and appropriate genetic tests.
However, patients face additional difficulty because they are often not supported by insurance. Due to the limits of medical knowledge and science, around 60% of rare diseases remain undiagnosed.
Even after the final diagnosis, treatment exists for only 10% of the rare diseases. Most patients hope for the development of treatments or cures. Even if a treatment does become available, patients and families suffer from the cost of medical expenses because they are not supported by insurance in most cases. According to the survey, one of five rare disease patients spend more than half of their earnings on medical expenses and some (4%) patients do not receive medical treatment because of the financial burden.
Status of Korean Government Support on Rare Diseases
Health authorities are carrying out a variety of support projects to ease the financial burden of families with rare diseases and to improve their quality of life.
It provides a special insurance program that covers medical expenses, now enabling the patients to pay only 10% of the total medical expenses. It also provides a genetic diagnosis support program for patients suspected of suffering from ultra-rare diseases. In order to provide improved quality of medical services and earlier diagnosis, the “1st Comprehensive Rare Disease Management Plan (2017 – 2021)” has been implemented. And Currently, the “2nd Comprehensive Plan for Rare Disease Management (2022 ~ 2026)” is being promoted.