According to the World Health Organization, there are more than 7,000 kinds of rare diseases in the world, but each country has different standards for defining rare diseases. These standards include prevalence rate, or additional regulations related to profitability and quality of life.
• The United States defines rare disease as a disease with prevalence rate of less than 200,000 people.
• Korea defines rare disease as a disease with prevalence rate of less than 20,000 people, or with no appropriate cure or treatment with prevalence rate of less than 42.5 per 100,000 people.
• Japan defines rare disease as a disease with prevalence rate of less than 50,000. It is also called incurable disease and is defined as a severe rare disease with unknown cause and no definite cure that has high possibility in leaving sequela to patients.
• Gaucher disease
• Turner syndrome
• Wilson’s disease
• Epidermolysis bullosa
• Neurotrophic keratopathy
*Source: Biotechnology policy center [BioINdustry No86. Status and prospect of orphan drug] 」