Related Experiment Video
Updated: Sep 9, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Numerical considerations for defining a rare disease in China]
1School of Medical Humanities and Social Sciences, Harbin Medical University, Harbin 150081, China.
Insights
China needs a clear definition for rare diseases to improve research and drug development. A suggested prevalence of less than 1/10,000 is proposed, considering the nation's population and current conditions.
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.
Abstract:
Rare diseases have become an issue of public health concern globally. In China, two rare diseases lists have been released officially in 2018 and 2023, respectively. However, due to its importance in research, clinical management , therapeutic drug development and health security, we still need a clear definition of rare diseases in China. Considering the current actual condition of our country and our population size, we would suggest a prevalence of less than 1/10 000 to define a rare disease in China.
More Related Videos
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
