【摘 要】
：
In China,rare diseases are defined as having a birth incidence of less than 1/10 000,or a prevalence of less than 1/10 000 or less than 140 000 patients.Over 7 000 rare diseases affect more than 20 million people in China.Many conditions are misdiagnosed
【机 构】
：
State Key Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,Chinese Academ
论文部分内容阅读
In China,rare diseases are defined as having a birth incidence of less than 1/10 000,or a prevalence of less than 1/10 000 or less than 140 000 patients.Over 7 000 rare diseases affect more than 20 million people in China.Many conditions are misdiagnosed or undiagnosed and most have no treatment,resulting in a huge burden on patients,their families,and the national economy.At the 297th Shuangqing Forum of the National Natural Science Foundation of China,we highlighted the challenges and potential solutions to achieve precision medicine for undiagnosed and rare diseases.
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