Senior Investigator

Chiea Chuen KHOR, M.D., Ph.D
Group Leader
Research Focus

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 interest has always been to study the determinants which predispose otherwise healthy human beings to 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.

Team members

Zheng Li, M.D., PhD (Research Associate / Senior Postdoc)
Robert K Valenzuela, PhD (Post-Doctoral Fellow, on joint appointment with Dr. Teo Yik Ying)
Xie Zhicheng, PhD (Senior Research Officer)
Meah Wee Yang (Assistant Laboratory Manager)
Sim Kar Seng (Assistant Bioinformatics Manager)
Chen Xiao Yin (Senior Research Officer; Illumina lead)
Heng Khai Koon (Senior Research Officer; Affymetrix lead)
Soo Hui Meng (Senior Research Officer; Sequencing Library Preparation)
Zhang Zhenshui (Senior Research Officer)
Peh Su Qin (Senior Research Officer)
Mok Shi Qi (Research Officer)

Dennis Tan Eng Kiat (Research Officer)
Current position: PhD student, University of Western Australia

Wong Chang Hua (Senior Research Officer; Sequenom lead)
Goh Yufen (Research Officer)
Masahiro Miyake, M.D. (Visiting Scholar from Kyoto University)

Toh Kai Yee (Research Officer)
Current Position: Executive, School of Public Health, National University of Singapore


2006 Doctor of Philosophy (D.Phil.), University of Oxford
2009 Bachelor of Medicine and Bachelor of Surgery (M.B.,B.S.), National University of Singapore

Professional Appointments

2008 - 2009Research Fellow, Host-Susceptibility to Infection group, Singapore Institute for Clinical Sciences
2009 – 2011Research Fellow, Infectious Diseases (Hibberd Group), Genome Institute of Singapore
2011-2012Research Scientist, Infectious Diseases (Hibberd Group), Genome Institute of Singapore
2010 - 2012Adjunct Assistant Professor, Department of Paediatrics, National University Health System
2011 - 2012Adjunct Assistant Professor, Saw Swee Hock School of Public Health, National University of Singapore
2011-Adjunct Clinician Scientist, Singapore Eye Research Institute
2012 - Assistant Professor, Department of Ophthalmology, National University Health System
2012 -Assistant Professor, Department of Paediatrics, National University Health System
2012 - Assistant Professor, Saw Swee Hock School of Public Health, National University of Singapore
2012 - 2015Senior Research Scientist (Principal Investigator)
2015 - Group Leader (Senior Principal Investigator)

Honors and Awards

2007 Gold medal and book prize in Ophthalmology
2013 Singapore National Academy of Science Young Scientist Award for Biological and Biomedical Sciences

Committee and Advisory Board

2007 - presentAssociate member, Clinician Scientist Unit, NUS Leadership in Academic Medicine, National University of Singapore.

External Grant

5 yearsNational Lymphoma Translational Research Program: From Genomics to Therapeutics (as Theme PI; Lead PI: Lim Soon Thye) by NMRC TCR Flagship (S$1,077,000)
3 yearsDevelopment of a diagnostic and prognostic model for primary open angle glaucoma (POAG) using genomic and endophenotypic constructs by BMRC / TCRP (S$168,000)
3 yearsPrognostic genetic markers of severe dengue (co-PI: Cameron Simmons) by A-STAR / NHMRC (S$483,000)
3 yearsWhole-exome high-throughput sequencing for patients with Inherited Cardiac Conditions (co-PI: Roger Foo) by NUHS (S$96,000)


201261/691,503 : Method and/or probe for determining glaucoma susceptibility (Filed)
201161/537,904 : ABCC5 genetic variants and risk prediction of glaucoma. Submitted by SingHeath on behalf of the Singapore Eye Research Institute, and agreed to by ETPL. (Filed)

Selected Publications

  1. Cheng CY, Yamashiro K, Jia Chen L, Ahn J, Huang L, Huang L, Cheung CM, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang J, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun Y, Davila S, Nakata I, Nakanishi H, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Matsuda F, Mori K, Yoneya S, Sakurada Y, Iijima H, Iida T, Honda S, Lai TY, Tam PO, Chen H, Tang S, Ding X, Wen F, Lu F, Zhang X, Shi Y, Zhao P, Zhao B, Sang J, Gong B, Dorajoo R, Yuan JM, Koh WP, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang N, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao J, Guan Ong P, Mitchell P, Zhou P, Xie X, Liang J, Mei J, Jin X, Saw SM, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu HG, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee SJ, Kim HW, Lee JE, Li Y, Liu J, Teo YY, Heng CK, Lim TH, Yang SK, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang Z, Park KH, Pang CP, Yoshimura N, Yin Wong T, Khor CC "New loci and coding variants confer risk for age-related macular degeneration in East Asians." Nature Communications 2015 ; 6 : 6063 Abstract     

  2. Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe SI, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Shahwan SA, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC "A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome." Nature Genetics 2015 Feb 23 Abstract     

  3. Dunstan SJ, Hue NT, Han B, Li Z, Tram TT, Sim KS, Parry CM, Chinh NT, Vinh H, Lan NP, Thieu NT, Vinh PV, Koirala S, Dongol S, Arjyal A, Karkey A, Shilpakar O, Dolecek C, Foo JN, Phuong LT, Lanh MN, Do T, Aung T, Hon DN, Teo YY, Hibberd ML, Anders KL, Okada Y, Raychaudhuri S, Simmons CP, Baker S, de Bakker PI, Basnyat B, Hien TT, Farrar JJ, Khor CC "Variation at HLA-DRB1 is associated with resistance to enteric fever." Nature Genetics 2014 Nov 10 Abstract     

  4. Chen Y, Lin Y, Vithana EN, Jia L, Zuo X, Wong TY, Chen LJ, Zhu X, Tam PO, Gong B, Qian S, Li Z, Liu X, Mani B, Luo Q, Guzman C, Leung CK, Li X, Cao W, Yang Q, Tham CC, Cheng Y, Zhang X, Wang N, Aung T, Khor CC#, Pang CP#, Sun X#, Yang Z# "Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma." Nature Genetics 2014 Aug 31 #shared last authors Abstract     

  5. Lu Y*, Vitart V*, Burdon KP*, Khor CC*, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackne r KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, Macleod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY * Joint first authors "Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus." Nature Genetics 2013 Jan 6 Epub 2013 Jan 6 Abstract     

  6. Khor CC, Hibberd ML "Host-pathogen interactions revealed by human genome-wide surveys." Trends in Genetics 2012 Mar 22 Abstract     

  7. Khor CC*, Davila S*, Breunis WB*, Lee YC, Shimizu C, Wright VJ, Yeung RS, Tan DE, Sim KS, Wang JJ, Wong TY, Pang J, Mitchell P, Cimaz R, Dahdah N, Cheung YF, Huang GY, Yang W, Park IS, Lee JK, Wu JY, Levin M, Burns JC, Burgner D, Kuijpers TW, Hibberd ML, on behalf of the Hong Kong-Shanghai, Korean, Taiwan, U.S. and International, Kawasaki Disease Genetics Consortiums. (* Joint first authors ) "Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease." Nature Genetics 2011 Nov 13 Epub 2011 Nov 13 Abstract     

  8. Khor CC, Chau TN, Pang J, Davila S, Long HT, Ong RT, Dunstan SJ, Wills B, Farrar J, Van Tram T, Gan TT, Binh NT, Tri LT, Lien LB, Tuan NM, Tham NT, Lanh MN, Nguyet NM, Hieu NT, Van N Vinh Chau N, Thuy TT, Tan DE, Sakuntabhai A, Teo YY, Hibberd ML, Simmons CP "Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1." Nature Genetics 2011 Oct 16 Epub 2011 Oct 16 Abstract     

  9. Khor CC*, Ramdas WD*, Vithana EN*, Cornes BK, Sim X, Tay WT, Saw SM, Zheng Y, Lavanya R, Wu R, Wang JJ, Mitchell P, Uitterlinden AG, Rivadeneira F, Teo YY, Chia KS, Seielstad M, Hibberd M, Vingerling JR, Klaver CC, Jansonius NM, Tai ES, Wong TY, van Duijn CM, Aung T * Joint first authors "Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area." Human Molecular Genetics 2011 May 1 ; 20(9) : 1864-72 Epub 2011 Feb 9 Abstract     

  10. Khor CC*#, Vannberg FO*, Chapman SJ*, Guo H*, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC, Chang KC, Kam KM, Crampin AC, Ngwira B, Leung CC, Tam CM, Chan CY, Sung JJ, Yew WW, Toh KY, Tay SK, Kwiatkowski D, Lienhardt C, Hien TT, Day NP, Peshu N, Marsh K, Maitland K, Scott JA, Williams TN, Berkley JA, Floyd S, Tang NL, Fine PE, Goh DL, Hill AV * Joint first authors; # Corresponding author "CISH and susceptibility to infectious diseases." New England Journal of Medicine 2010 Jun 3 ; 362(22) : 2092-101 Epub 2010 May 19 Abstract     

Complete Publications List

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