[Numerical considerations for defining a rare disease in China]

Area of Science:

• Public health
• Genetics
• Pharmacology

Context:

• Global rise in rare disease awareness.
• China's official rare disease lists released in 2018 and 2023.
• Need for a standardized rare disease definition in China.

Purpose:

• To propose a prevalence threshold for defining rare diseases in China.
• To address the importance of a clear definition for research, clinical management, drug development, and health security.

Summary:

• Rare diseases are a significant global public health concern.
• Existing Chinese rare disease lists necessitate a refined, population-specific definition.
• A prevalence of less than 1/10,000 is suggested for China.

Impact:

• Facilitate targeted research and clinical strategies for rare diseases in China.
• Guide therapeutic drug development efforts.
• Enhance national health security by improving rare disease identification and management.