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）

作者：连天宇; 颜艺; 丁东; 马悦佼; 张学; 荆志成^*

来源：Science Bulletin, 2022, 67(24): 2490-2493.

• 新药研发
• 生物样本

<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].

• 单位
  上海交通大学; 医学分子生物学国家重点实验室; 北京协和医学院; 中国医学科学院北京协和医院