title: Study and analysis of the state of rare disease research in Shandong Province, China.
abstract: As the world's most populous country, China has the world's largest number of rare disease groups in terms of prevalence. However, the country has no system of registering cases of most rare diseases, so there is very little documented information on the epidemiology of those diseases. The purpose of this study was to study the state of rare disease research and survey doctors in Shandong Province regarding their level of awareness of rare diseases. Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. Eight hundred and twenty-four doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaire. Data were descriptively analyzed and a map of disease distribution was created. Articles about rare diseases were retrieved from the Chinese Biomedical Literature Database to provide pertinent data. This study yielded 5,749 cases of 323 different types of rare diseases. The survey found that doctors lack awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research is urgently needed. Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China.
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China; ; Ji'nan University Shandong Academy of Medical Sciences College of Life Science and Medicine, Ji'nan, Shandong, China.
authors.forename: Heng
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Yazhou
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Jingxiang
authors.initials: J
authors.lastname: Pang
authors.affiliation: Ji'nan University Shandong Academy of Medical Sciences College of Life Science and Medicine, Ji'nan, Shandong, China.
authors.forename: Xiumei
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Shuangqing
authors.initials: S
authors.lastname: Xu
authors.affiliation: Shandong Medicinal Biotechnology Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Jinxiang
authors.initials: J
authors.lastname: Han
keywords: Rare diseases; awareness survey; descriptive analysis