A5101904374- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Retinal and Optic Conditions
- Pulmonary Hypertension Research and Treatments
- Biomedical Ethics and Regulation
- Health Systems, Economic Evaluations, Quality of Life
- RNA modifications and cancer
- BRCA gene mutations in cancer
- Long-Term Effects of COVID-19
- Genetics and Neurodevelopmental Disorders
- Vascular Anomalies and Treatments
- Multiple Sclerosis Research Studies
- Epigenetics and DNA Methylation
- Cystic Fibrosis Research Advances
- Cardiovascular Issues in Pregnancy
- Global Public Health Policies and Epidemiology
Chinese Academy of Medical Sciences & Peking Union Medical College
2019-2024
National Bureau of Statistics of China
2021
Peking Union Medical College Hospital
2019-2021
Rationale: Oral treprostinil improves exercise capacity in patients with pulmonary arterial hypertension (PAH), but the effect on clinical outcomes was unknown.Objectives: To evaluate of oral compared placebo time to first adjudicated worsening event participants PAH who recently began approved monotherapy.Methods: In this event-driven, double-blind study, we randomly allocated 690 (1:1 ratio) receive or extended-release tablets three times daily. Eligible were using monotherapy for over 30...
Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable promise in various domains, including medical diagnosis. Rare diseases, affecting approximately 300 million people worldwide, often unsatisfactory clinical diagnosis rates primarily due to a lack of experienced physicians and the complexity differentiating among many rare diseases. In this context, recent news "ChatGPT correctly diagnosed 4-year-old's disease after 17 doctors failed" underscore LLMs' potential,...
Abstract Background China has made tremendous progresses in serving the needs of its people living with rare diseases past decade, especially over last 5 years. The Chinese government’s systematic approach included a series coordinated initiatives, amongst these are: forming Rare Disease Expert Committee (2016), funding “Rare Diseases Cohort Study” (2016–2020), and publishing first Catalog” (2018). Herein, we present National Registry System (NRDRS)—China’s national registry, analysis cases...
There is an increasing need for better understanding of the impact coronavirus disease 2019 (COVID-19) on patients with neuromyelitis optica spectrum disorder (NMOSD). A few pilot studies have investigated COVID-19 infections in NMOSD, but addressed activity and immune status these during pandemic. We carried out a cross-sectional study to examine status, relapses, cohort NMOSD using electronic patient registry (MSNMOBase) multiple sclerosis related disorders. An online questionnaire was...
Rare diseases are one of the major challenges we face today in era precision medicine, because low incidence and prevalence, difficulty diagnosis, lack sufficient therapeutic methods, as well their significant impacts on affected individuals, families society. Integration clinical phenotypic biological omics data further analysis providing a way to illustrate mechanisms rare diseases, discovering novel diagnostic prognostic biomarkers, developing orphan drugs other therapeutics, improving...
Abstract China has made remarkable broad and system wide progress in serving the needs of its people living with rare diseases, especially over last 5 years. The Chinese government’s systematic approach included a series coordinated initiatives, amongst these are: forming Rare Disease Expert Committee (2016), to funding “Rare Diseases Cohort Study” (2016–2020), publishing first Catalog” (2018). Herein, we present National Registry System (NRDRS), China’s national diseases registry, analysis...