Chiea Chuen KHOR

Assistant Professor


Assistant Professor, Department of Biochemistry, Yong Loo Lin School of Medicine, NUS.
Group Leader (Senior Principal Investigator), Genome Institute of Singapore, A*STAR.
Adjunct Clinician Scientist, Singapore Eye Research Institute.


Degree and Institution Year(s)
National University of Singapore 1999-2008
PhD, University of Oxford 2002-2005

Professional Experience

Position and Institute Year(s)
Joint Assistant Professor, Department of Biochemistry, Yong Loo Lin School of Medicine, NUS 2015–present
Group Leader, Human Genetics, Genome Institute of Singapore, A*STAR 2015–present
Joint Assistant Professor, Department of Ophthalmology, National University of Singapore 2012–present
Joint Assistant Professor, Saw Swee Hock School of Public Health, National University of Singapore 2012–present
Adjunct Clinician Scientist, Singapore Eye Research Institute 2011–present

Research Interest

Many a time, we observe (and sometimes even comment) that a friend's child bears a striking resemblance to his/her parent. This is a profound testimony to the contribution of hereditable elements which shape our being. We now go one little step further and ask: 'Are some of the diseases afflicting us linked, in one way or another, to our genetic makeup?"

Although I qualified as a medical doctor, I realized that my calling was to pursue medical research in a full-time manner. My unifying research interest is to study the determinants which predispose otherwise healthy human beings to developing disease, and to see if the information so gathered can be used to help patients. Unfortunately, we do not fully understand how disease processes work. I enjoy conducting genetic studies because more often than not, the findings illuminate medical science, and have an opportunity to change clinical practise for the better in the long term. My laboratory practise spans many areas of human genetics studied across diverse human traits and disease conditions, with the long term goal of translating genetic findings into predictive medicine to improve healthcare in Singapore.

Current disease domains of interest are as follows:
  • Eye diseases
  • Infectious diseases
  • Pharmacogenomics
  • Cancer genetics

Selected Publications

  1. Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S,... Khor CC. A common variant mapping to CACNA1A is associated with susceptibility to Exfoliation syndrome. Nature Genetics 2015; 47:387-92

  2. Cheng CY, Yamashiro K, Jia Chen L, Ahn J, Huang L, Huang L, Cheung CM, Miyake M,... Khor CC. New loci and coding variants confer risk for age-related macular degeneration in East Asians. Nature Communications 2015; 6:6063

  3. Dunstan SJ, Hue NT, Han B, Li Z, Tram TT, Sim KS, Parry CM, Chinh NT, Vinh H,... Khor CC. Variation at HLA-DRB1 is associated with resistance to enteric fever. Nature Genetics 2014; 46:1333-1336

  4. Khor CC, Chau TN, Pang J, Davila S, Long HT, Ong RT, Dunstan SJ, Wills B, Farrar J,... Simmons CP. Genome-wide association study identifies susceptibility loci for Dengue shock syndrome at MICB and PLCE1. Nature Genetics 2011; 43:1139-41

  5. Khor CC, Davila S, Breunis WB, Lee YC, Shimizu C, Wright VJ, Yeung RS, Tan DE, Sim KS,... and Hibberd ML, on behalf of the Hong Kong-Shanghai, Korean, Taiwan, U.S. and International, Kawasaki Disease Genetics Consortiums. Genome-wide association study identifies FCGR2A as a susceptibility factor for Kawasaki disease. Nature Genetics 2011; 43:1241-6.

  6. Khor CC, Vannberg FO, Chapman SJ, Guo H, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC,... Hill AV. CISH and Susceptibility to Infectious Diseases. New England Journal of Medicine 2010; 362:2092-2101