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A/Prof Lai Poh San

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  • Associate Professor, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore
  • Associate Professor, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore (Research Specialty: Human Genetics)


PhD (National University of Singapore)

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Associate Professor Lai Poh San heads the Human Molecular Genetics Lab of the Department of Paediatrics at Yong Loo Lin School of Medicine, NUS and Khoo Teck Puat-National University’s Children Medical Institute (KTP-NUCMI), NUH. Her interests are in human genetics and genomics. She leads several projects related to neuromuscular disorders, congenital diseases and undiagnosed disorders. She has been involved in the development of genetic tests for molecular analysis, prenatal diagnosis and genetic counselling of paediatric genetic diseases in Singapore, having first set-up the laboratory for molecular studies in paediatric disorders such as Duchenne muscular dystrophy, retinoblastoma, haemophilia and spinal muscular atrophy in 1989. For this work, she was the recipient of the Singapore National Youth Award for Science and Technology in 1998 (the highest accolade in the country for Science and Technology in youth category). A/Prof Lai was also the sole recipient of the Young Investigator’s Award given by the Singapore Academy of Medicine in 1992 in recognition of outstanding original research work that was presented at the 26th Singapore-Malaysia Congress of Medicine. Currently, she has special interests in harnessing novel next-gen technologies to understand disease pathogenesis for clinical applications. She is involved in the highly collaborative work of implementing genomic medicine for rare diseases through clinical exome and genome sequencing. 

A/Prof Lai serves on a number of international consortiums, advisory committees, editorial journal boards and societies. She is President of the Biomedical Research and Experimental Therapeutics Society of Singapore (BRETSS) and immediate Past President of Asia-Pacific Society of Human Genetics (APSHG). She is an executive committee member of the International Federation of Human Genetics Societies (IFHGS), and member of the American Society of Human Genetics (ASHG) and American College of Medical Genetics (ACMG). She is Co-Chair for the HUGO Pan-Asian Population Genomics Initiative (HUGO-PAPGI) and has served as a member of the Scientific Advisory Board for health program at the Philippines Genome Center in Manila.  

A/Prof Lai is an adjunct Faculty Member of the Genome Institute of Singapore (GIS), Adjunct Principal Member of Technical Staff with the Defence Medical and Environmental Research Institute (DMERI), Defence Science Organisation, Singapore and Scientific Advisor to the Molecular Diagnostic Lab (MDC) at NUH.  She sits on a number of local committees such as the Local Review Panel (OF-YIRG) of the National Medical Research Council, Institutional Review Board for the Defence Science Organization (DSO) and Singapore Armed Forces (SAF) and Institutional Review Board for Lee Kong Chian School of Medicine, Nanyang Technological University. At NUS, A/Pro f Lai is the Deputy Chair of the Institutional Biosafety Committee and Vice-Chair of MD1 Tahir Foundation Building Research Safety Committee besides serving on the Centre of Translational Medicine (CeTM) Safety Committee and the YLL School of Medicine Safety Committee. She also serves as Technical Assessor/Expert for the Singapore Accreditation Council (Singapore Laboratory Accreditation Scheme). She sits on the Advisory Board on several genetics and genomics-related organisations and serves on the Editorial Boards of several journals. She also serves on Ph.D. committees, and trains both graduate students and interns. She has extensive collaborations with overseas and local institutes, holding or having held more than 25 grants awarded as Principal Investigator or Co-Investigator. She has two patents filed in the field of diagnostics and therapeutics for muscular dystrophy.

Journals & Publications

1. Tomar S, Sethi R, Sundar G, Quah TC, Quah BL, Lai PS (2017). Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. PLoS ONE, 12(6):e0178776. doi: 10.1371/journal.pone.0178776
2. Rochmah M, Awano H, Awaya T, Harahap NIF, Morisada N, Bouike Y, … Lai PS (2017). Spinal muscular atrophy carriers with two SMN1 copies. Brain & Development, 39(10): 851-860. doi: 10.1016/j.braindev.2017.06.002
3. Seow N, Lai PS, Yung LY (2014). Gold nanostructures for the multiplex detection of glucose-6-phosphate dehydrogenase gene mutations. Analytical Biochemistry, 451:56-62. doi: 10.1016/j.ab.2014.01.014
4. Lin L, Wong L, Leong TY, Lai PS (2010). Efficient mining of haplotype patterns for linkage disequilibrium mapping. Journal of Bioinformatics and Computational Biology, 8 Suppl 1:127-46.
5. Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, … Nishio H (2014). Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Brain & Development, 36(10):914-20. doi: 10.1016/j.braindev.2013.11.009
6. Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, … Nishio H (2013). Spinal muscular atrophy: from gene discovery to clinical trials. Annals of Human Genetics, 77(5):435-63. doi: 10.1111/ahg.12031
7. Chong A, Malavasi F, Israel S, Khor CC, Yap VB, Lai PS, … Ebstein RP (2017). ADP ribosyl-cyclases (CD38/CD157), social skills and friendship. Psychoneuroendocrinology, 78:185-192. doi: 10.1016/j.psyneuen.2017.01.011
8. Yim OS, Zhang X, Shalev I, Monakhov M, Zhong S, Lai PS, … Ebstein RP (2016). Delay discounting, genetic sensitivity, and leukocyte telomere length. Proceedings of the National Academy of Sciences of the United States of America, 113(10):2780-5. doi: 10.1073/pnas.1514351113
9. Krol KM, Monakhov M, Lai PS, Ebstein RP, Grossmann T (2015). Genetic variation in CD38 and breastfeeding experience interact to impact infants' attention to social eye cues. Proceedings of the National Academy of Sciences of the United States of America, 112(39):E5434-42. doi: 10.1073/pnas.1506352112
10. Ebstein RP, Monakhov MV, Lu Y, Jiang Y, Lai PS, Chew SH (2015). Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese. Proceedings. Biological Sciences. 282(1813):20151360. doi: 10.1098/rspb.2015.1360
11. Ebstein RP, Zhong SF, Chark R, Lai PS, Chew SH (2014). Genetics of Social Cognition in the Laboratory: Definition, Measurement and Association. In T.Canlin (eds), The Oxford Handbook of Molecular Psychology, Oxford University Press (Book Chapter).
12. Ebstein RP, Knafo A, Mankuta D, Chew SH, Lai PS (2012). The contributions of oxytocin and vasopressin pathway genes to human behavior. Hormones & Behaviour, 61(3):359-79. doi: 10.1016/j.yhbeh.2011.12.014
13. Lai PS, Cheah PY, Kadam P, Chua CL, Lie DK, Li HH, … Lee AS (2006). Overexpression of RB1 transcript is significantly correlated with 13q14 allelic imbalance in colorectal carcinomas. International Journal of Cancer, 119(5):1061-6. doi: 10.1002/ijc.21945
14. Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Lai PS, … Kunkel LM (2009). Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genetics, 10:66. doi: 10.1186/1471-2156-10-66
15. Pramono ZA, Wee KB, Wang JL, Chen YJ, Xiong QB, Lai PS, Yee WC (2012). A prospective study in the rational design of efficient antisense oligonucleotides for exon skipping in DMD gene. Human Gene Therapy, 23(7):781-90. doi: 10.1089/hum.2011.205
16. Chen HY, Kathirvel P, Yee WC, Lai PS (2009). Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing. Gene Therapy, 16(2):211-7. doi: 10.1038/gt.2008.150
17. Mapping Human Genetic Diversity in Asia. The HUGO Pan-Asian SNP Consortium. SCIENCE 2009, Dec 11;326(5959):1541-5 (Consortium member authorship).

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