Prof. Huiwen Zhang worked as a postdoctoral fellow at the Children's Hospital Affiliated to the University of Toronto from 2004.7 to 2006.8, studying lysosomal proteomics and lysosomal function. Since working in Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine in 2006, she has been focusing on the diagnosis and treatment of lysosomal storage diseases. The establishment of 25 lysosomal enzyme activity tests has effectively improved the level of disease diagnosis. More than 1,500 patients from all over the country have been diagnosed, and prenatal diagnosis has been provided for about 500 patients' families to prevent the recurrence of the same disease in the family. On this basis, the disease spectrum of lysosomal storage diseases in East China was summarized, and the more common diseases and their incidence were found, which laid the foundation for the formulation of relevant policies for the prevention and treatment of birth defects.
Taking Niemann-Pick disease type A/B as an example, this research group reported for the first time in the world that plasma 7-ketocholesterol by mass spectrometry can be used as a rapid diagnostic indicator of the disease. During the study of 118 cases of Niemann-Pick disease type A/B, it was proposed that the plasma 7-ketocholesterol concentration, a biomarker, is of great significance for disease classification, and provides support for the selection of disease treatment methods, disease monitoring, and genetic counseling.
The team has carried out a number of clinical studies on drugs for lysosomal storage diseases. She has a long experience in the treatment of lysosomal storage diseases with small molecule drugs, and reported the efficacy of the "old drug new" ambroxol single drug on the skeletal system, which is a difficult point in the treatment of Gaucher's disease. A Clinical Study of Disease Type C" (ClinicalTrials Accession No. NCT03201627) completed as the principal investigator "A single-group uncontrolled 12-month clinical study in Chinese subjects to evaluate the safety and efficacy of miglastat in the treatment of type C Niemann-Pick disease".
The applicant's research on lysosomal storage diseases has received four grants from the National Natural Science Foundation of China, the Shanghai Municipal Science and Technology Commission and the Health and Health Commission, and has published more than 30 SCI papers as the first and corresponding author. Commissioned the Youth Science and Technology Rising Star and Tracking Program, and was selected into the Shanghai Education Commission-Shanghai Jiaotong University School of Medicine "Peak Plateau" program. She is the deputy head of the Pediatric Endocrine Genetic Metabolism Group of the Pediatrics Branch of the Shanghai Medical Association. In November 2020, with Professor Gu Xuefan, we launched the "China Lysosomal Storage Disease Neonatal Screening Collaborative Group".
Xia Zhan, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Jun Guo, Siyu Chang, Yu Wang, Huiwen Zhang. Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China. Steroids. 2022 May 31;109056.
Mengni Yi, Yu Wang, Xiaolan Gao, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Gustavo H B Maegawa, Huiwen Zhang. Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. JOURNAL OF INHERITED METABOLIC DISEASE. 2022 May;45(3):593-604.
Shiqian Han, Huiwen Zhang, Mengni Yi, Xiaoqing Liu, Gustavo H. B. Maegawa, Yunding Zou, Qijun Wang, Dianqing Wu, Zhijia Ye. Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1. Frontiers n Pharmacology. 2021 June. Volume 12. (5.8)
Hu J, Maegawa GHB, Zhan X, Gao X, Wang Y, Xu F, Qiu W, Han L, Gu X, Zhang H. Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B. Hum Mutat. 2021 May;42(5):614-625.. （4.8）
Wenjun Jiang , Nan Jia , Chaowan Guo, Juan Wen, Lingqian Wu, Tomoo Ogi, Huiwen Zhang. Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder. Biochim Biophys Acta Mol Basis Dis. 2021 Feb 23;1867(6):166106. （5.2）
Jiang W, Yi M1, Maegawa GHB, Zhang H. Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. J Hum Genet. 2020. 65(3):345-349. (3.5)
Wang Yu, Jun Ye, Wenjuan Qiu, Lianshu Han, Xiaolan Gao, Lili Liang, Xuefan Gu, Huiwen Zhang. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. Acta Pharmacologica Sinica 2019;40(2):279-287.（4.0）
Kang L, Wang Y, Gao X, Qiu W, Ye J, Han L, Gu X, Zhang H. Brain Dev. 2018 40(10):876-883. Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. Genotypes and phenotypes in type 2 Gaucher disease（1.545）
Liu Huan, Jiang Wenjun. Xueru Chen, Guoying Chang, Lei Zhao, Xihua Li, Huiwen. Zhang Skeletal muscle-specific Sidt2 knockout in mice induced muscular dystrophy-like phenotype. Metabolism clinical and Experimental. 2018 Aug;85:259-270. （5.963）
Chen X, Gu X, Zhang H. J Lipid Res. 2018,59(3):404-415. Sidt2 regulates hepatocellular lipid metabolism through autophagy. （4.505）
Zhao S, Zhan X, Wang Y, Ye J, Han L, Qiu W, Gao X, Gu X, Zhang H.Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease. Clin Genet. 2018;93(2):248-254. （3.512）
A rare form of Gaucher disease resulting from saposin C deficiency. Blood Cells Mol Dis. 2018 Feb;68:60-65. （1.836）
Kang L, Zhan X, Gu X, Zhang H. J Hum Genet. 2017 Aug;62(8):763-768. Successful newborn screening for Gaucher disease using fluorometric assay in China. （2.942）