Dr. Shih-Feng Tsai

Shih-Feng Tsai, M.D., Ph.D.
Distinguished Investigator 
Institute of Molecular and Genomic Medicine


Ph.D., Division of Human Genetics, Mt. Sinai School of Medicine, City University of New York, USA (1987)
M.D., Taipei Medical College, Taiwan (1981)


Distinguished Investigator         Institute of Molecular and Genomic Medicine  (Previously Division of Molecular and Genomic Medicine), National Health Research Institutes, Taiwan (2010- present)

Professor         National Tsing Hua University, Taiwan (2007- present)

Director         Division of Molecular and Genomic Medicine, National Health Research Institutes, Taiwan (2000- 2007)

Investigator         Division of Molecular and Genomic Medicine, National Health Research Institutes, Taiwan (2000- 2010)

Professor         Institute of Genome Sciences (Previously Institute of Genetics), National Yang-Ming University, Taiwan (1997-present)

Associate Professor         Institute of Genetics, National Yang-Ming University, Taiwan (1991-1997)

Fellow         Department of Pediatrics, Harvard Medical School, USA (1988-1990)

Fellow         Division of Hematology/Oncology, Children’s Hospital, Boston, USA (1988-1990)

Fellow         Division of Medical Genetics, Mt. Sinai Medical Center, New York, USA (1987-1988)


Research areas include human genetics, cancer genomics, and microbial genomics. My laboratory has applied genetic and genomic approach to identify genes associated with two inherited diseases: osteonecrosis of the femoral head and familial primary cutaneous amyloidosis. The discovery of the disease-causing mutations can help us better understand the pathogenesis of the genetic disorders, the knowledge of which should facilitate the development of improved practices for preventing and managing the inherited disorders. Using high-throughput genotyping, sequencing, and microarray methods, we have investigated the genetic basis of liver cancer and lung cancer. Also, we have combined genomic analysis with cell culture and animal models to develop rational treatment based on individual genetic makeup to achieve personalized medicine. For the study of microbiology, we have conducted whole-genome sequencing on bacterial pathogens, including Vibrio vulnificus, Klebsiella pneumoniae, and Acinetobacter baumannii. The sequence information can help understand the evolution of microbial organisms and the molecular basis of bacterial virulence, antimicrobial resistance, and their transmission.



Professor Tsai has helped the establishment of genome research facility at the National Yang-Ming University and the National Health Research Institutes. His team has pioneered in Taiwan the whole-genome sequencing of a biological organism and championed in genomic studies of Vibrio vulnificus and Klebsiella pneumoniae. He has led the successful identification of two Col2A1 gene variants responsible for the autosomal dominant form of osteonecrosis of the femoral head. His team also discovered high frequency and complex pattern of the Epidermal Growth Factor Receptor gene mutation in adenocarcinoma of the lung in Taiwanese patients and conducted de novo sequencing and SNP discovery projects for the chromosome 4q region implicated in hepatocellular carcinoma oncogenesis. Professor Tsai has authored more than 100 peer-reviewed papers in the fields of genetics and genomics.


  1. Ho CH, Tsai SF. Functional and biochemical characterization of a T cell-associated anti-apoptotic protein, GIMAP6. J Biol Chem. 2017 ;292(22):9305-9319. doi: 10.1074/jbc.M116.768689
  2. Dou HY, Lin CH, Chen YY, Yang SJ, Chang JR, Wu KM, Chen YT, Chin PJ, Liu YM, Su IJ, Tsai SF.  Lineage-specific SNPs for genotyping of Mycobacterium tuberculosis clinical isolates. Sci Rep. 2017 ;7(1):1425. doi: 10.1038/s41598-017-01580-z.
  3. Lin YF, Li LH, Lin CH, tsou MH, Chuang MT Kiffer, Wu KM, Liao TL, Li JC, Wang WJ, Tomita A, Tomita B, Huang SF, Tsai SF*. Selective Retention of an Inactive Allele of the DKK2 Tumor Suppressor Gene in Hepatocellular Carcinoma. PLoS Genetics 2016;12(5):e1006051
  4. Huang TW, Chen TL, Chen YT, Lauderdale TL, Liao TL, Lee YT, Chen CP, Liu YM, Lin AC, Chang YH, Wu KM, Kirby R, Lai JF, Tan MC, Siu LK, Chang CM, Fung CP, Tsai SF. Copy Number Change of the NDM-1 sequence in a multidrug-resistant Klebsiella pneumoniae clinical isolate. PLoS One. 2013 Apr 29;8(4):e62774.
  5. Wu KM, Li LH, Yan JJ, Tsao N, Liao TL, Tsai HC, Fung CP, Chen HJ, Liu YM, Wang JT, Fang CT, Chang SC, Shu HY, Liu TT, Chen YT, Shiau YR, Lauderdale TL, Su IJ, Kirby R, Tsai SF. Genome sequencing and comparative analysis of Klebsiella pneumoniae NTUH-K2044, a strain causing liver abscess and meningitis. (2009) J Bacteriol. 191(14):4492-501.
  6. Su JS, Tsai TF, Chang HM, Chao KM, Su TS, Tsai SF. Distant HNF1 site as a master control for the human class I alcohol dehydrogenase gene expression. (2006) J Biol Chem. 281:19809-19821.
  7. Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CS, Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. (2005) N Engl J Med. 352(22):2294-2301.
  8. Huang SF, Liu HP, Li LH, Ku YC, Fu YN, Tsai HY, Chen YT, Lin YF, Chang WC, Kuo HP, Wu YC, Chen YR, Tsai SF. High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. (2004) Clin Cancer Res. 10(24):8195-8203.
  9. Chen CY, Wu KM, Chang YC, Chang C-H, Tsai HC, Liao TL, Liu YM, Chen HJ, Shen Arthur BT, Li JC, Su TL, Shao CP, Lee CT, Hor LI, & Tsai SF. Comparative genome analysis of Vibrio vulnificus, a marine pathogen. (2003) Genome Research 13: 2577-2587.

Lab Members

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