上海市医学会罕见病专科分会

邱文娟 主任医师
学会任职: 副主任委员
所属分会: 罕见病专科分会
工作单位: 新华医院
出诊信息: 点击查看
专业: 儿科
亚专业: 内分泌遗传代谢
专业主攻方向: 以遗传代谢病为代表的罕见病的临床诊治及发病机制、生化分子检测、新生儿筛查及产前诊断
主要学术成就、科技奖项、发明创造、著作、重要论文等

现任上海交通大学医学院硕士生导师及苏州大学医学院博士生导师,新华医院儿内分泌遗传代谢科的科室副主任(主持工作)。长期从事儿科内分泌遗传代谢病及罕见病的临床诊治及基础研究工作,在全国对多种遗传代谢病的诊治能力有较高影响力。对遗传代谢病的生化、酶学、新生儿筛查、基因及产前诊断诊断有丰富经验,对多种先天遗传代谢病的发病机制和生化分子诊断进行了深入的研究。通过十余年对糖原累积病和先天性肾上腺皮质增生症的诊治和系列研究,使新华医院成为国内最大的糖原累积病和先天性肾上腺皮质增生症的诊治中心之一,此外对Citrin缺陷病、苯丙酮尿症、脂肪酸氧化障碍和部分溶酶体病的诊断和发病机制曾进行过深入研究。在新华医院小儿内分泌遗传室的遗传代谢病检测技术平台,包括血串联质谱、尿气相质谱、酶学检测、细胞培养及分子遗传等技术平台的建立发挥重要作用。2020年作为新华医院儿内分泌遗传代谢科的科室副主任组建了儿内分泌遗传代谢科,在专科新病房建设及罕见病诊疗体系构建方面发挥了主导作用,年收治1000余例患者,其中遗传性罕见病收治率达40%,年度开展平均20-30次的罕见病的科普宣教工作,为广大罕见病患者提供了优质诊疗工作。近5年承担上海市卫建委课题1项,参与国家科技部重点专项2项。以通讯/第一作者发表SCI论文 11篇,副主编 1部和参编4部遗传代谢病相关的专著,作为执笔或通讯作者发表4项遗传代谢病诊疗共识和指南,获国家级、市级科技奖1项。 近5年发表SCI论文(第一或通讯作者): 1.Duan Y, Xia Y, Gong Z, Liu H, Zhang K, Yang Y, Wang R, Xiao B, Qiu W. A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency. Molecular Syndromology. 2022, Nov(通讯,IF:2.1 )JCR:Q4 2.Xiaomei Luo, Ying Duan, Di Fang, Yu Sun, Bing Xiao, Huiwen Zhang, Lianshu Han, Lili Liang, Zhuwen Gong, Xuefan Gu, Yongguo Yu, Wenjuan Qiu. Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Hum Mutat. 2022;43(5):557-567. (通讯,IF:4.7)JCR:Q2 3.Yu Xia, Ying Duan, Wanqi Zheng, Lili Liang, Huiwen Zhang, Xiaomei Luo, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu. Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia J Clin Lipidol 2022 Jan-Feb;16(1):40-51.doi: 10.1016/j.jacl.2021.11.015. Epub 2021 Dec 6.(通讯,IF:5.365)JCR:Q1 4.Xiantao Ye, Di Fang, Yunjuan He, Wenjuan Qiu*, Yu Sun*. Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes. European Journal of Medical Genetics. 2020;63(12):104074 (通讯,IF:2.708)JCR:Q3 5.Xia Zhang#, Wenjuan Qiu#,  Huili Liu Xiantao Ye Yu Sun Yanjie Fan, Yongguo Yu.  RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders. Ann Hum Genet. 2020 Nov;84(6): 456-462.  (共一,IF:2.18) JCR:Q4 6.Luo X, Hu J, Gao X, Fan Y, Sun Y, Gu X, Qiu W*. Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reprts. BMC Med Genet. 2020 Apr 8;21(1):74. (通讯,IF:2.103) JCR:Q4 7.Bing Xiao, Lili Wang, Huili Liu, Yanjie Fan, Yan Xu, Yu Sun#, Wenjuan Qiu#. Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity. Molecular Genetics & Genomic Medicine. 2019;7:e945(通讯,IF:1.995)JCR:Q3 8.Bing Xiao , Di Fang , Huili Liu, Lili Wang, Wenjuan Qiu*. A novel NFKB2 mutation in a Chinese patient with DAVID syndrome. Gene. 2019 Mar 1;687:319-322(通讯,IF:2.984) JCR:Q2 9.Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu* and Wenjuan Qiu*.Genetic analysis and clinical assessment of four patients with glycogen storage disease type IIIa in China. BMC Medical Genetics. 2018 Apr 4;19(1):54. (通讯,IF:1.74) Q3 10.Bing Xiao, Wenjuan Qiu#, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun#, Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities. American Journal of Medical Genetics part A, 2018, 176(1), 107-115. (共同通讯,IF:2.197)JCR:Q3 11.Yu Sun, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen, Wenjuan Qiu, Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. Journal of Human Genetics, 2017, 62(6), 647-651. (第一,IF: 2.942)JCR:Q2