About Researcher

Mr Edmund Pua graduated with a Bachelor of Biomedical Sciences majoring in Genetics at University of Adelaide and further studied at Queensland University of Technology to receive a Bachelor of Applied Science. 

At National Heart Research Institution Singapore (NHRIS), he study inherited cardiac conditions (ICCs) using next generation sequencing (NGS) approach. A comprehensive genetic test to diagnose all known ICCs including cardiomyopathies, familial hypercholesterolemia and prevent sudden cardiac death was developed in Year 2016 and being used by clinical and research laboratories worldwide. More recently, the team discovers the commonest caused of hypertrophic cardiomyopathy (HCM) in Chinese that improve the diagnostics yield of genetic test from 17.9% to 22.3% in Singaporeans. 

Additionally, his research counterparts also focus on the translatomics of cardiac diseases to reveal novel regulatory targets, translation patterns and mechanisms using small RNA (ribonucleic acid) sequencing, mRNA (messenger RNA) sequencing, ChIPSeq (chromatin immunoprecipitation sequencing) and ribosomal profiling and involved in bioinformatics supports for multiple research projects

With supports from National Medical Research Council and National Heart Centre Singapore, he has set up a HBRA:HTF (Human Biomedical Research Act: Human Tissue Framework) compliance biospecimen and DNA (deoxyribonucleic acid) core facility at NHRIS that stores thousands of blood samples, donated by patients with cardiac diseases and healthy volunteers.

Education & Training

• BAppSc Queensland University of Technology 2010
• BSc University of Adelaide 2009

Professional Appointments & Committee Memberships

• Senior Research Officer, National Heart Research Institute Singapore, National Heart Centre Singapore
• Member, Information Technology Steering Committee, NHCS 
• Associate Member, NHRIS Biospecimens and DNA Core Facility Committee, NHCS
  

Awards

• ​NHCS Centre Grant Seed Funding, 2019
• SingHealth Talent Development Fund (TDF) Award, 2016
  

Research Interests

• Cardiovascular genetics
• Inherited Cardiac Conditions

Publications

• Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients. Pua CJ, Tham N, Chin CW, Walsh R, Khor CC, Toepfer CN, Repetti GG, Garfinkel AC, Ewoldt JF, Cloonan P, Chen CS, Lim SQ, Cai J, Loo LY, Kong SC, Chiang CWK, Whiffin N, de Marvao A, Lio PM, Hii AA, Yang CX, Le TT, Bylstra Y, Lim WK, Teo JX, Padilha K, Venturini G, Pan B, Govind R, Buchan RJ, Barton PJ, Tan P, Foo R, Yip JWL, Wong RCC, Chan WX, Pereira AC, Tang HC, Jamuar SS, Ware JS, Seidman JG, Seidman CE and Cook SA. Circ Genom Precis Med. 2020.
• The application of exercise stress cardiovascular magnetic resonance in patients with suspected dilated cardiomyopathy. Le TT, Bryant JA, Ang BWY, Pua CJ, Su B, Ho PY, Lim S, Huang W, Lee PT, Tang HC, Chin CT, Tan BY, Cook SA and Chin CW. J Cardiovasc Magn Reson. 2020;22:10.
• The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy. Lahrouchi N, Raju H, Lodder EM, Papatheodorou S, Miles C, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen M, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Sheppard MN, Bezzina CR and Behr ER. Eur J Hum Genet. 2020;28:17-22.
• Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging. Teo JX, Davila S, Yang C, Hii AA, Pua CJ, Yap J, Tan SY, Sahlén A, Chin CW, Teh BT, Rozen SG, Cook SA, Yeo KK, Tan P and Lim WK. Commun Biol. 2019;2:361.
• Widespread Translational Control of Fibrosis in the Human Heart by RNA-Binding Proteins. Chothani S, Schäfer S, Adami E, Viswanathan S, Widjaja AA, Langley SR, Tan J, Wang M, Quaife NM, Jian Pua C, D'Agostino G, Guna Shekeran S, George BL, Lim S, Yiqun Cao E, van Heesch S, Witte F, Felkin LE, Christodoulou EG, Dong J, Blachut S, Patone G, Barton PJR, Hubner N, Cook SA and Rackham OJL. Circulation. 2019;140:937-951.
  
• Interleukin-11 is a therapeutic target in idiopathic pulmonary fibrosis. Ng B, Dong J, D'Agostino G, Viswanathan S, Widjaja AA, Lim WW, Ko NSJ, Tan J, Chothani SP, Huang B, Xie C, Pua CJ, Chacko AM, Guimarães-Camboa N, Evans SM, Byrne AJ, Maher TM, Liang J, Jiang D, Noble PW, Schafer S and Cook SA. Sci Transl Med. 2019;11.
  
• Early Regenerative Capacity in the Porcine Heart. Ye L, D'Agostino G, Loo SJ, Wang CX, Su LP, Tan SH, Tee GZ, Pua CJ, Pena EM, Cheng RB, Chen WC, Abdurrachim D, Lalic J, Tan RS, Lee TH, Zhang J and Cook SA. Circulation. 2018;138:2798-2808.
• Beyond fitness tracking: The use of consumer-grade wearable data from normal volunteers in cardiovascular and lipidomics research. Lim WK, Davila S, Teo JX, Yang C, Pua CJ, Blöcker C, Lim JQ, Ching J, Yap JJL, Tan SY, Sahlén A, Chin CW, Teh BT, Rozen SG, Cook SA, Yeo KK and Tan P. PLoS Biol. 2018;16:e2004285.
• High-Sensitivitycardiac Troponinsin Cardio-Healthy Subjects: A Cardiovascular Magnetic Resonance Imaging Study. Aw TC, Huang WT, Le TT, Pua CJ, Ang B, Phua SK, Yeo KK, Cook SA and Chin CWL. Sci Rep. 2018;8:15409.
• Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CCW, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS and Cook SA. Eur Heart J. 2017;38:3461-3468.
• IL-11 is a crucial determinant of cardiovascular fibrosis. Schafer S, Viswanathan S, Widjaja AA, Lim WW, Moreno-Moral A, DeLaughter DM, Ng B, Patone G, Chow K, Khin E, Tan J, Chothani SP, Ye L, Rackham OJL, Ko NSJ, Sahib NE, Pua CJ, Zhen NTG, Xie C, Wang M, Maatz H, Lim S, Saar K, Blachut S, Petretto E, Schmidt S, Putoczki T, Guimarães-Camboa N, Wakimoto H, van Heesch S, Sigmundsson K, Lim SL, Soon JL, Chao VTT, Chua YL, Tan TE, Evans SM, Loh YJ, Jamal MH, Ong KK, Chua KC, Ong BH, Chakaramakkil MJ, Seidman JG, Seidman CE, Hubner N, Sin KYK and Cook SA. Nature. 2017;552:110-115.
• Titin-truncating variants affect heart function in disease cohorts and the general population. Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N and Cook SA. Nat Genet. 2017;49:46-53.
• Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen MC, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Bezzina CR, Sheppard MN and Behr ER. J Am Coll Cardiol. 2017;69:2134-2145.
• Novel Index of Maladaptive Myocardial Remodeling in Hypertension. Goh VJ, Le TT, Bryant J, Wong JI, Su B, Lee CH, Pua CJ, Sim CPY, Ang B, Aw TC, Cook SA and Chin CWL. Circ Cardiovasc Imaging. 2017;10:e006840.
• Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS and Cook SA. J Cardiovasc Transl Res. 2016;9:3-11.