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Related Experiment Video

Updated: Mar 1, 2026

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma
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Defining rare diseases in China.

Yazhou Cui1, Jinxiang Han1

  • 1Shandong Academy of Medical Science, Shandong Medical Biotechnological Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Ji'nan, China.

Intractable & Rare Diseases Research
|June 6, 2017
PubMed
Summary

China faces challenges defining rare diseases for its large population. A newly created rare disease list may replace prevalence-based definitions, aiding healthcare policy.

Area of Science:

  • Public Health
  • Genetics
  • Healthcare Policy

Background:

  • China has the world's largest population affected by rare diseases.
  • Defining rare diseases in China has been a long-standing challenge.
  • Previous definitions lack universal stakeholder agreement.

Purpose of the Study:

  • To address the definitional challenges of rare diseases in China.
  • To explore alternative approaches for rare disease identification and policy.
  • To introduce the potential utility of a rare disease list.

Main Methods:

  • Review of existing rare disease definitions in China.
  • Analysis of stakeholder consensus on rare disease criteria.
  • Introduction of a newly compiled rare disease list.
Keywords:
Chinadefinitionrare diseases

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Main Results:

  • Multiple prevalence-based definitions have been proposed but not universally adopted.
  • A consensus-based rare disease list has been developed.
  • The list offers a potential alternative to prevalence thresholds.

Conclusions:

  • A rare disease list can overcome definitional impasses in China.
  • This list may serve as a practical tool for healthcare policy-making.
  • It provides a unified approach to rare disease identification and management.