title: Focusing on rare diseases in China: are we there yet?
abstract: The Chinese researchers have made significant progress in studying rare diseases in the recent years. From 2000 to 2014, 269 out of 1892 clinically relevant original research papers published on high impact journals by Chinese institutions, and 2678 out of 6040 clinical trials conducted by Chinese institutions and registered at ClinicalTrial.gov are focused on rare diseases. The number of research papers and of clinical trials has shown a steady trend of increase. Creating public databases for rare disease will escalate progress in rare disease and enable multicenter studies.
authors.affiliation: Department of Neurology, The Second Xiangya Hospital, Central South University, No. 139 Middle Renmin Road, Changsha, Hunan, 410011, PR China. yangli762@gmail.com.
authors.forename: Li
authors.initials: L
authors.lastname: Yang
authors.affiliation: Department of Bioengineering, University of Pennsylvania, 210S. 33rd street, Suite 240 Skirkanich Hall, Philadelphia, PA, 19104, USA. suchang@seas.upenn.edu.
authors.forename: Chang
authors.initials: C
authors.lastname: Su
authors.affiliation: Mallinckrodt Institude of Radiology, Washingto University in Saint Louis, 510 S Kingshighway Blvd, St. Louis, MO, 63110, USA. ashley.lee@hotmail.com.
authors.forename: Ashley M
authors.initials: AM
authors.lastname: Lee
authors.affiliation: Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. hxbai@hotmail.com.
authors.forename: Harrison X
authors.initials: HX
authors.lastname: Bai
mesh_terms: D035843:Biomedical Research / Q000379:methods / Q000639:trends*; D002681:China / Q000453:epidemiology; D002986:Clinical Trials as Topic / Q000379:methods; D016208:Databases, Factual / Q000639:trends; D006801:Humans; D010506:Periodicals as Topic / Q000639:trends; D035583:Rare Diseases / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy