六维生物样本银行的概念及其推动罕见病新药研发的作用（英文）-Science Bulletin2022年24期-知网阅读

六维生物样本银行的概念及其推动罕见病新药研发的作用（英文）

The Medical Science Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Heart Center and Shanghai Institute of Pediatric Congenital Heart Disease, Shanghai Children's Medical Center, National Children's Medical Center, Shanghai Jiao Tong University School of Medicine ; The Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences | 连天宇颜艺丁东

<正>In 2001, Dr. Zhi-Cheng Jing encountered a pulmonary arterial hypertension (PAH) patient from a large pedigree. Dr. Jing collected the clinical information and blood samples from this pedigree and was the first to report the pedigree of familial PAH in China [1]. In2004, this pedigree was confirmed to carry a mutation in BMPR2(Arg491Trp), which was the first evidence of pathogenicity of BMPR2 mutation in the Chinese population [2].