【个人简介】

Ø遗传学博士、博士研究生导师

Ø东京大学共同研究学者,贝勒医学院高级访问学者

Ø日本疑难与罕见病期刊副主编,日本癌学会会员,中国妇幼保健协会精准医学专委会性发育疾病学组委员等

复旦大学遗传学博士，主要从事医学遗传学研究及多学科门诊（MDT）遗传病因学诊断，曾任上海交通大学医学院博导，交大附属儿童医院泌尿生殖系统畸形研究中心主任，2024年引进到广妇儿。擅长利用遗传学、生物信息学和表型组数据开展出生缺陷遗传队列研究，进行复杂疾病的多因素阈值模型研究和产前遗传风险评估。曾作为东京大学客座研究员参与日本Biobank表型组学的遗传队列研究;并作为主要成员搭建加州大学癌症图谱计划激酶磷酸化及突变数据库 (http://cancer.ucsf.edu/phosphoatlas)平台。

【研究方向】

出生缺陷的遗传分子调控机制研究及遗传病因学诊断

Ø方向1: 复杂出生缺陷的遗传分子机制研究和产前遗传风险评估

Ø方向2: 复杂出生缺陷结合生物信息学的多组学分析

【科研项目】

（1）国家自然科学基金面上项目,多基因遗传互作致尿道下裂异质性的遗传机制研究（32470641），2025-01-01至2028-12-31，50万，在研，主持。

（2）深圳市医学研究重大专项,重大妊娠疾病影响母婴健康的机制及防治策略研究（B2404004），2025-01-01至2029-12-31，160万，在研，子课题负责人。

（3）广东省自然科学基金面上项目,心脏发育过程结构变异及分子调控网络导致右位心的机理研究，2025-01-01至2027-12-31，10万，在研，主持。

（4）广东市科技项目,神经发育过程结构变异及分子调控网络致颅骨发育异常的机理研究，2025-01-01至2026-12-31，4万，在研，主持。

（5）国家自然科学基金面上项目, 外生殖器发育过程中基因变异及分子调控网络导致尿道下裂的机理研究（81970572），2020-01-01至2023-12-31，55万，结题，主持。

【代表性论文及著作】

1.Zhongzhong Chen, R.H. Finnell, Y. Lei, H. Wang. Progress and clinical prospect of genomic structural variants investigation. Science Bulletin. 2024; Jan 28:S2095-9273(24)00062-8.

2.Lei Lu, Meizhu Bai, Yufang Zheng, Xiukun Wang, Zhongzhong Chen, …, Yunping Lei, Jinsong Li, Hongyan Wang. Wang. The interaction of endorepellin and neurexin triggers neuroepithelial autophagy and maintains neural tube development. Science Bulletin. 2024 Mar 15:S2095-9273(24)00182-8.

3.Yu Ding, Zuquan Chen, …, Zhongzhong Chen*, Fang Chen. The association and underlying mechanism of the digit ratio (2D:4D) in hypospadias. Asian Journal of Andrology. 2024 Mar 29. doi: 10.4103/aja202377.

4.Zhongzhong Chen, Yunqian Gao, Lei Lu, Nan Li, Pei Liu, Rui Peng, Lingling Liu, Hefeng Huang, Qihua Fu, Haifa Hong, Jianguo Zhang, Hongyan Wang. Rare Loss-of-Function variants reveal threshold and multifactorial inheritance of Dextrocardia. Science Bulletin. 2023; Sep 30;68(18):1993-1998.

5.Zhongzhong Chen, Yanlin Wang, Fuying Lan, et al. An expanded view of infertility: The challenge of the changing profiling of major birth defects in China. BioScience Trends. 2023 Jul 20. doi: 10.5582/bst.2023.01160.

6.Zhongzhong Chen, Yunping Lei, Richard H. Finnell, et al. Whole-exome sequencing study of hypospadias. iScience. 2023; 12;26(5):106663.

7.Zhongzhong Chen, Ping Li, Yiqing Lyu, et al. Molecular genetics and general management of androgen insensitivity syndrome. Intractable Rare Diseases Research. 2023; 12(2):71-77.

8.Rui Zhao*, Li Cao*, Wen-Jun Gu*, Lei Li*, Zhongzhong Chen*, Jie Xiang, Ze-Yu Zhou, Bo Xu, Wei-Dong Zang, Xiang-Yu Zhou, Jing Cao, Kun Sun, Jian-Yuan Zhao. (2023) Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease. Cell Reports Medicine. 2023; 21;4(3):100953. (*co-first author)

9.Zhongzhong Chen, Yunqian Gao, Hua Xie, et al. Transcription factors dysregulated in three complex birth defects datasets. Reproductive and Developmental Medicine. 2022; 6 (02):79-85.

10.Zhongzhong Chen, et al. (2021) Re: Vuthy Ea, Anne Bergougnoux, Pascal Philibert, et al. How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. Eur Urol 2021;79:507-515. European Urology. 2021;80(1):e10-e11.

11.Zhongzhong Chen, Xiaoling Lin, et al. Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias. Molecular Genetics & Genomic Medicine. 2020; 8(8):e1346.

12.Zhongzhong Chen, Xiaoling Lin, Yunping Lei, et al. Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13. BMC Med Genomics. 2019; 19;12(1):196.

13.Jean-Philippe Coppé, Miki Mori, …, Zhongzhong Chen, …, and Laura J. van ‘t Veer. Mapping phospho-catalytic dependencies of therapy-resistant tumors reveals new actionable vulnerabilities. Nature Cell Biology. 2019; 21(6):778-790.

14.Yunping Lei*, Sung-Eun Kim*, Zhongzhong Chen*, …, Richard H. Finnell. Variants Identified in PTK7 Associated with Neural Tube Defects. Molecular Genetics & Genomic Medicine. 2019; 7(4):e00584. (*co-first author)

15.Zhongzhong Chen, Yunping Lei, Yufang Zheng, Vanessa Aguiar-Pulido, M. Elizabeth Ross, Rui Peng, Li Jin, Ting Zhang, Richard H. Finnell, Hongyan Wang. Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell Research. 2018; 28(10):1039-1041.

16.Zhongzhong Chen, Yunping Lei, Xuanye Cao, et al. Genetic analysis of Wnt/PCP genes in neural tube defects. BMC Med Genomics. 2018; 11(1):38.

17.Zhongzhong Chen, Lele Kuang, Richard H. Finnell, Hongyan Wang. Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. Human Genetics. 2018; 137(3):195-202.

18.Xiaoling Lin*, Zhongzhong Chen*, Haitao Chen, …, Siqun Lilly Zheng, Jianfeng Xu. TEX15: A DNA repair gene associated with prostate cancer risk in Han Chinese. The Prostate. 2017; 77(12):1271-1278. (*co-first author)

19.Aleksandra Olow*, Zhongzhong Chen*, R. Hannes Niedner, …, Laura J. van 't Veer, Jean-Philippe Coppe. An Atlas of the Human Kinome Reveals the Mutational Landscape Underlying Dysregulated Phosphorylation Cascades in Cancer. Cancer Research. 2016; 76(7):1733-1745. (*co-first author)

20.Zhongzhong Chen, …, Kevin C. Weng. GeneSense: a new approach for human gene annotation integrated with protein-protein interaction networks. Scientific Reports. 2014; 4:4474.

21.Jue Ruan, Heng Li, Zhongzhong Chen, Avril Coghlan, …, Lars Bolund, Jun Wang, Richard Durbin. (2008) TreeFam: 2008 Update. Nucleic Acids Research. 2008; 36: D735-D740.

国际专利：

1.Zhongzhong Chen, Jean-Philippe Coppé. Method and system for building and using a centralized and harmonized relational protein and peptide database. WO/2011/032725.

2.Paolin Shen, Li Jiang, Kejun Jiang, Zhongzhong Chen. Discovery tool with integrated microfluidic biomarker optical detection array device and methods for use. WO/2009/088408.