ECNU and Beijing Children's Hospital Group jointly set up a rare disease medical platform.
A rare disease medical platform, jointly set up by the East China Normal University and Beijing Children's Hospital Group, went online on February 29, the World Rare Disease Day.
The platform, http://www.pediascape.cn/rare/, contains information on nearly 3,000 rare diseases, which includes clinical manifestation, biochemical analysis, image data, disease spectrum and genetic testing. Apart from collecting clinic treatment methods, the platform also serves a database for prognosis research on rare disease patients by random follow-up visits, which will be conducive to information collection, medical research and treatment of rare diseases.
The project was initiated by the bioinformatics research team led by Professor Shi Tieliu of ECNU’S School of Life Sciences and Beijing Children's Hospital Attached to Capital Medical University.
Professor Shi Tieliu
According to Shi, it is difficult for doctors to make the right diagnosis due to lack of information and knowledge on rare diseases. In order to make a change, members of his research team, including Jia Jinmeng, Ming Yue, An Zhongxin and Li Xin, decided to join hands with Beijing Children's Hospital to establish such a platform to form an information exchange bridge between rare disease sufferers and doctors and provide a reference for doctors in clinic diagnosis and treatment.
“We hope to collect information on more rare disease patients and wish more hospitals to join us in the work in the future so that rare diseases can be conquered one day,” Shi said.
The rare disease, also named as the orphan disease, refers to any disease that affects a small percentage of the population. There is no single, widely accepted definition for rare diseases. However, the WHO defines rare diseases as that affect 0.65-1 person in every 1,000 people. So far, there are 7,000 diseases defined as rare diseases worldwide. More than 80 percent of them are genetic. China is home to more than 10 million rare disease sufferers.
The first Rare Disease Day was held by the European Organization for Rare Diseases (EURORDIS) on February 29, 2008. The date was chosen because February 29 is a “rare day.” Since that year, it has been observed globally.
