ReviewIntractable & rare diseases research2017
Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.
Review in Intractable & rare diseases research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed.
- Review
- Visualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.Intractable & rare diseases research · 2026Article
- Big data for neuroscience in the context of predictive, preventive, and personalized medicine.The EPMA journal · 2025Review
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries.Orphanet journal of rare diseases · 2024Article
- Analysis on the Marketing Trend and Approval Lag of Imported Orphan Drugs from 2010 to 2021 in China.Therapeutic innovation & regulatory science · 2023Article
- Long way to go: Progress of orphan drug accessibility in China from 2017 to 2022.Frontiers in pharmacology · 2023Article
- 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.Orphanet journal of rare diseases · 2021Article
- A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China.Orphanet journal of rare diseases · 2021Article
- Establishing a rare diseases center: Experiences from Western China.Intractable & rare diseases research · 2021Article
- Health service security of patients with 8 certain rare diseases: evidence from China's national system for health service utilization of patients with healthcare insurance.Orphanet journal of rare diseases · 2019Article
- Incidence and prevalence of 121 rare diseases in China: Current status and challenges.Intractable & rare diseases research · 2019Review
- Accessibility of drugs for rare diseases in China: Policies and current situation.Intractable & rare diseases research · 2019Review
- System building and improvement for the diagnosis and treatment of rare diseases in Shanghai, China.Intractable & rare diseases research · 2018Article
- A compilation of national plans, policies and government actions for rare diseases in 23 countries.Intractable & rare diseases research · 2018Review
- National information system for rare diseases with an approach to data architecture: A systematic review.Intractable & rare diseases research · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases - the "Rare Diseases Clinical Cohort Study" - was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020. The project plans to develop 109 technical standards, to establish and improve 2 national databases of rare diseases - a multi-center clinical database and a biological sample library, and to conduct studies on more than 50,000 registered cases of 50 different rare diseases. More importantly, this study will be combined with the concept of precision medicine. Chinese population-specific basic information on rare diseases, clinical information, and genomic information will be integrated to create a comprehensive predictive model with a follow-up database system and a model to evaluate prognosis. This will provide the evidence for accurate classification, diagnosis, treatment, and estimation of prognosis for rare diseases in China. Numerous challenges including data standardization, protecting patient privacy, big data processing, and interpretation of genetic information still need to be overcome, but research prospects offer great promise.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.