Rare Disease Real-World Data Lab

The Rare Disease Real-World Data Lab at The Chinese University of Hong Kong, Shenzhen Research Institute, is dedicated to studying the quality of life and disease burden among rare disease patients. We deeply explore the critical stages and needs in their care journeys to facilitate the development of precise support and intervention measures. Our lab is committed to constructing a multidisciplinary real-world research database for rare disease patients, conducting comprehensive social surveys, and employing mixed-methods designs centered on quantitative research while integrating theoretical support and research hypotheses derived from prior qualitative studies.

Core Research Directions

• Patient-Centered Database Construction

  Establishing a real-world research database based on self-reported data from rare disease patients and their primary caregivers, comprehensively capturing patient experiences.

• Quality of Life and Disease Burden Assessment

  Investigating the impact of rare diseases on patients' and families' quality of life and disease burden through in-depth analysis.

• Multistakeholder Social Surveys

  Conducting comprehensive social surveys targeting rare disease patients, patient organizations, and medical professionals to understand diverse needs and perspectives.

• Assisted Reproductive Technology Expansion Research

  Employing ethnographic methods to observe and explore the development of assisted reproductive technologies across regions, including Shanghai, Lanzhou, and Thailand.

Impact and External Engagement

Beyond our research activities, our lab is committed to translating findings into real-world impact and fostering collaboration within the rare disease community. Our work, including collaboration with patients, NGOs, grassroots patient organizations, medical professionals, anthropologists, and sociologists, has contributed to policy advancements at both national and international levels.

Research Outcomes & Value

• Evidence-Based Practice: We provide empirically-driven guidance for clinical and care practices for rare disease patients, offering scientific evidence for relevant policy development.
• Disease-Specific Registries: Our lab has established disease-specific patient registries and quality of life assessment systems that track the long-term progression of individual rare diseases.
• Academic Achievements: We have published 2 monographs in Chinese and English, 55 SCI & SSCI academic papers related to our laboratory's research focus, led 6 academic research projects, and secured over 1.8 million RMB in research funding (including participation in one National Natural Science Foundation general project and five industry-sponsored projects).

Our Director, Dr. Dong Dong, also plays key roles in various organizations, including serving on the boards of the Asian Pacific Alliance of Rare Disease Organisations (APARDO), the China Alliance for Rare Diseases, the Beijing Society of Rare Disease Clinical Care and Accessibility, The Illness Challenge Foundation, and the Beijing Aili Myasthenia Gravis Care Center. Dr. Dong is also a member of the Scientific and Medical Advisory Committee (SMAC) of Rare Disease Hong Kong (RDHK) and a consultant for the Cancer Patient Alliance Hong Kong.