张静澜

基本信息

姓名：

张静澜

职称：

研究员

导师类型：

博士生导师

专业：

生物化学与分子生物学

研究方向：

医学分子遗传学

邮箱地址：

jinglanzhang@foxmail.com

个人简介

张静澜，复旦大学附属生殖与发育研究院, 复旦大学附属妇产科医院研究员，博士生导师，上海市科学技术进步一等奖，国家科学技术进步二等奖项获得者。

张静澜博士的研究主要集中于运用分子生物学和生物化学技术开创人类遗传性疾病的诊断方法学，开发了一系列针对大规模人群的临床遗传性疾病检测技术，比如隐性遗传疾病携带者筛查，新生儿代谢病筛查，慢性肾脏病个性化医疗筛查、单基因病产前无创检测等。此外，利用临床全外显子组测序发现了新的人类致病基因VPS11，利用模式动物功能研究揭示了自噬体与胚胎脑发育密切相关的信号通路及作用机制。以通讯作者或第一作者在行业内领先杂志发表多篇论文，如 Nature Medicine, Cell Discovery, Molecular Cell, PLOS Genetics, Genetics in Medicine, Journal of Molecular Diagnostics等，是美国American Board of Medical Genetics注册认证的分子遗传学、生物化学遗传学学家，并是美国医学遗传学院专家委员 (Fellow, American College of Medical Genetics)。张静澜博士在2019年回国以前是美国专业排名第一得贝勒医学院人类遗传系助理教授，贝勒医学遗传学检验室主任及研发部主任。

主要科研项目

1. 国家自然科学基金委员会, 面上项目, Matriptase-3参与介导胚胎胼胝体及早期脑发育的机制研究, 2023-01-01 至 2026-12-31, 50万元, 在研, 主持

2.国家重点研发计划“儿童神经发育异常的遗传调控研究”；课题：儿童神经发育异常的致病基因发现，2020YFA0804000，课题负责人，2020.12-2025.11，239万，主持

3. 国家自然科学基金委员会面上项目“新型胎儿游离核酸多维整合分析技术揭示染色体非整倍体发生机制与临床应用”，82071661，课题负责人，2021.01-2024.12，59万元，主持

代表性论文（^#第一作者，*通讯作者）

1.Xu C, Li J, Chen S, Cai X, Jing R, Qin X, Pan D, Zhao X, Ma D, Xu X, Liu X, Wang C, Yang B, Zhang L, Li S, Chen Y, Pan N, Tang P, Song J, Liu N, Zhang C, Zhang Z, Qiu X, Lu W, Ying C, Li X, Xu C, Wang Y, Wu Y, Huang HF, Zhang J.*. (2022) Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening. Cell Discov. 2022 Oct 13;8(1):109. *Corresponding author IF=38.08

2.Xu C, Cai X, Chen S, Luo Q, Xi H, Zhang D, Wang H, Wu Y, Huang HF, Zhang J*. (2021) Comprehensive non-invasive prenatal testing for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicenter study. BMJ Open. 11(8):e053617. *Corresponding author IF=2.692

3.Pan N, Chen S, Cai X, Li J, Yu T, Huang HF, Zhang J*, Xu C*. (2021) Low level germline mosaicism of a novel SMARCA2 missense variant: expanding the phenotypic spectrum and mode of genetic transmission. Mol Genet Genom Med. 9(9):e1763. * equally contribute IF= 2.342

4.Zhang J*， Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. (2019) Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-447 *Corresponding author IF=36.13

5.Yasuda M, Gan L, Chen B, Yu C, Zhang J, Goma-Sosa M, Pollak DD, Berger S, Phillips DJ, Edelmann W, Desnick JR (2019) Characterization of Homozygous Hydroxymethylbilane Synthase Knock-in Mouse Model Provides Pathogenic Insights into the Severe Neurological Impairment of Human Homozygous Dominant Acute Intermittent Porphyria. Hum Mol. Genet. doi: 10.1093/hmg/ddz003 IF= 4.544

6.Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. (2018) Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci. 115(51):13039-13044 IF=9.580

7.Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL，Bi W. (2018) Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. Am J Med Genet A.176(4):973-979 IF= 2.197

8.Nadkarni G, Galarneau G, Ellis S, Nadukuru R, Zhang J, Scott S, Schurmann C, Li R, Rasmussen-Torvik L, Kho A, Hayes G, Pacheco J, Manolio T, Chisholm R, Roden D,  Denny J, Kenny E, Bottinger E (2017) Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. J Am Coll Cardiol. 69 (12) 1564-1574 IF= 16.834

9.Feng Y, Ge X, Scull J, Meng L, Wen S, Li J, Jin W, Wang X, Mei H, Muzny D, Yang Y, Beaudet A, Eng CM, Xia F, Wong LJ, Zhang J. (2017) The Next-Generation of Population-based Spinal Muscular Atrophy Carrier Screening: Comprehensive Pan-ethnic SMN1 Copy Number and Sequence Variant Analysis by Massively Parallel Sequencing Genet in Med. 19(8):936-944 *Corresponding author IF= 9.980

10.Scott DA, Hernandez-Garcia A, Azamian M, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR,  Iglesias ID, Rosenfeld J, Xia F. (2017) Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Gen. 54(1):47-53 IF= 5.751

11.Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L. (2016) A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects PLOS Genet. 12(4):e1005848 IF= 6.100

12.Zhang J*, Fedick A, Wasserman S, Zhao G, Edelmann L, Bottinger EP, Kornreich R, Scott SA (2016) Analytical validation of a personalized medicine APOL1 genotyping assay for non-diabetic chronic kidney disease risk assessment J Mol Diag 18(2) *Corresponding author IF=4.526

13.Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R (2015) ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Gen Med. 7(1):77 IF= 5.846

14.Zhang J, Yasuda M, Desnick RJ,  Balwani M, Bishop D, Yu C. (2011)  A LC–MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen J Chrom B. 879(24):2389-96 IF= 2.888

15.Kim B-J*, Li Y*, Zhang J*, Yang T, Jung SY, Wang Y, Pan X, and Qin J (2010) Acetylation of SMC3 by ESCO1 regulates DNA damage response in human cells. J Biol Chem 285(30):22784-92 * equally contribute IF= 5.328

16.Zhang J, Shi X, Li Y, Kim BJ, Jia J, Huang Z, Yang T, Fu X, Jung SY, Wang Y, Zhang P, Kim ST, Pan X, Qin J.(2008) Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast. Mol Cell 31(1):143-51 (Featured article) IF= 12.903

17.Luo H, Li Y, Mu JJ, Zhang J, Tonaka T, Hamamori Y, Jung SY, Wang Y, and Qin J (2008). Regulation of intra-S phase checkpoint by IR-dependent and IR-independent phosphorylation of SMC3. J Biol Chem 283(28):19176-83 IF= 5.52

18.Mu JJ, Wang Y, Luo H, Leng M, Zhang J, Yang T, Besusso D, Jung SY, Qin J. (2007) A proteomic analysis of ataxia telangiectasia-mutated (ATM)/ATM-Rad3-related (ATR) substrates identifies the ubiquitin-proteasome system as a regulator for DNA damage checkpoints. J Biol Chem. 282(24):17330-4. IF= 5.676

19.Zhang J, Simmons C, Yalpani N, Crane V, Wilkinson H, Kolomiets M.(2005) Genomic analysis of the 12-oxo-phytodienoic acid reductase gene family of Zea mays. Plant Mol Biol. 59(2):323-43 IF= 3.328

代表性著作

1.  Fedick A.M., Zhang J., Edelmann L., Kornreich R. (2019) Prenatal  Diagnosis of Cystic Fibrosis. Methods Mol Biol. 1885:221-231

2.  Zhang, J., Chen, H., Kornreich R., Yu, C. (2019) Prenatal Diagnosis of Tay-Sachs Disease. Methods Mol Biol. 1885:233-250

3.  Fedick, A., Zhang, J. (2017) Next Generation of Carrier Screening. Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, Springer

4.  Mei H., Dai H., Zhang J., Wong L.J., Magoulas L.P. (2017)  Application of Next-Generation Sequencing in Noonan Spectrum Disorders. Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, Springer

获奖

1. 国家科技进步二等奖（发育源性疾病和遗传性出生缺陷的机制研究及临床精准防控 完成人：黄荷凤、徐晨明、金丽、吴琰婷、陈松长、张静澜等），2020

2. 上海市科技进步一等奖（发育源性疾病和遗传性出生缺陷的机制研究及临床精准防控 完成人：黄荷凤、徐晨明、张静澜等），2019

3. Top rated abstract at ACMG Annual Clinical Genetics Meeting （Title: Population Carrier Screening for Spinal Muscular Atrophy by Next Generation Sequencing）， 2016

4.  Chinese Government Award for Outstanding Self-financed Students Abroad （国家优秀自费留学生）, 2008, The Government of People’s Republic of China

5.  John R. Kelsey Jr. Student Award, 2008, Baylor College Medicine