Han Xiao   Ph.D
	Professor  Master Supervisor
	Email：hanxiao@sxu.edu.cn

 

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Education experience

2007-2010 Doctor of Philosophy, Molecular Virology, School of Biology, University of St Andrews, UK         

2000-2003 Bachelor of Science Degree, Biochemistry Major, Faculty of Medicine, National University of Singapore

 

Work experience

2015-Present:  Professor of Rare disease genetics, Executive Director, Institutes of Biomedical Sciences, Shanxi University, China           

2013-2016: Lab Director, Caregeno Medical Laboratories, China

Sep 2013- Dec 2013:  Visiting Scholar, University of California, Los Angeles, US

2013:  Research Fellow, Cancer Science Institute, National University of Singapore                   

2010-2013: Project Manager, Scientist, Dx assays, Singapore                    

Jul 2010- Sep 2010: Visiting Scholar, University of Freiburg, Germany               

Sept 2007- Oct 2010: Teaching Assistant, University of St Andrews, UK               

2003-2007: Laboratory Biologist, Institute of Molecular and Cell Biology, Singapore     

 

Research interest

   The field of rare diseases suffers from a deficit of medical and scientific knowledge. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently there was no real research or public health policy concerning issues related to the field. The Centre’s aims are focused on the study of rare genetic diseases, with a view to the identification of the mutation(s) causing the disease. Once a causal mutation(s) is established, the objective is to develop diagnostic tests for translation back into a clinical setting.

1. Disease Gene Discovery

By building up a common set of high-throughput genotyping and sequencing technologies through collaborative efforts, our investigation of disease inheritance and susceptibility focus on rare genetic variants to human diseases by carrying out targeted or whole exome sequencing analysis of patient cohorts, particularly the ones with either severe phenotypes or strong family inheritance. Availability and affordability of high throughput sequencing have made possible the generation of a plethora of sequencing data in a large collection of patients affected with complex and rare diseases, which will help us to achieve a good understanding on the whole spectrum of disease-related genetic variants.

2. Functionalisation of Disease Risk Loci

We are also interested in understanding biological mechanisms that underlie these genetic risk loci by pinpointing causal variants through fine-mapping analysis and characterising their functional impacts using in vitro and in vivo model systems. By combining comprehensive association analysis and functional annotation of all the variants within the critical region of a disease risk locus, we are searching for functional variants that are the primary driver and thus the causal event of disease association. In addition, banking on the great number of novel disease risk loci discovered by our genetic studies of rare diseases, to pursue the functional investigation of these genetic risk loci by building up in vitro cellular models of disease where genetic risk variants are introduced into disease-relevant cells derived from either mesenchymal stem cells (MSC) or induced pluri-potent stem cells (iPS) for functional interrogation. As a complementary effort, we are also collaborating to establish in vivo model animals for the functional investigation of disease risk-associated genes or genetic variants.

 

Publications

1. Yong-An Zhou, Ping Li, Yanping Zhang, Qiuhong Xiong, Chao Li, Zhonghua Zhao, Yuxian Wang, Han Xiao. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. Mol Genet Genomic Med 2019. 00:e1058. DOI: 10.1002/mgg3.1058.

2.  Li P, Zhang L, Xiong Q, Wang Z, Cui X, Zhou YA, Wang Y, Xiao H, Wu C. Functional evaluation of a novel GLA causative mutation in Fabry disease. Mol Genet Genomic Med 2019 Jul 18:e864. doi: 10.1002/mgg3.864.

3.  Xiong Q, Li W, Li P, Zhao Z, Wu C, Xiao H. Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl. Mol Genet Genomic Med. 2019 Jul 22:e858. doi: 10.1002/mgg3.858.

4. Han Xiao, Yu Xue, Yi Liu, Wenjing Li, Na Zhao, Qiuhong Xiong, Ping Li, Yanling Yang, and Changxin Wu. A Novel de novo mutation in the autophagy gene WDR45 causes BPAN in a Chinese family. Journal of Molecular and Genetic Medicine. 12:4.

5. Ping Li, Lijuan Zhang, Na Zhao, Qiuhong Xiong, Yong-An Zhou, Changxin Wu, Han Xiao. A novel GLA splicing mutation predisposes to Fabry disease. Frontiers in Genetics.

6. Zhuoya Huang, Yongan Zhou, Xiaoxia Fu, Aiping Kou, Hairong Fu, Xiao Han, Ying Jin, Zhonghua Zhao. A novel INDEL mutation in the PTCH1 gene in a Chinese family with Gorlin syndrome. Int J Clin Exp Pathol. 2018;11(12):6042-6046

7. Jing Wang, Yuxian Wang, Meiling Chong, Yaohong Hao, Zhuoyu Li, Han XIAO. Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia. Peer Rev J Foren & Gen Sci 1(3). 2018

8. Xiong Q, Liu Y, Xue Y, Liu S, Wang J, Li P, Wu C, Yang Y, Xiao H. A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family. Hum Genome Var. 2018 Jan 11;5:17059.

9. Chen D, Zhao N, Wang J, Li Z, Wu C, Fu J, Xiao H. 2017. Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family. Human Genome Variation 4: 17027.

10. Nur Sabrina Sapari, Eiram Elahi, Mengchu Wu, Marie Loh, Hong Kiat Ng, Xiao Han, Hui Ling Yap, Thomas P Klemm, Brendan Pang, Touati Benoukraf, Yik Ying Teo, Barry Iacopetta, Soo Chin Lee, and Richie Soong. Feasibility of low-throughput next generation sequencing for germline DNA screening. Clinical Chemistry. 60(12):1549-57.

11. Xiao H, Killip MJ, Staeheli P, Randall RE, Jackson D (2013). The human interferon-induced MxA protein inhibits early stages of influenza A virus infection by retaining the incoming viral genome in the cytoplasm. J Virol. 2013 87(23):13053-8.