RESEARCH
Every one of us carries coding changes in our DNA that disrupt the function of genes; many of these changes are rare in the population, and some are even unique to us and our relatives. These changes are heritable, naturally-occurring and contribute to our inter-individual differences. The aim of my research is to identify these changes and to use them as “experiments of nature” to gain insights into why some individuals are more susceptible to certain diseases than others. Identifying the underlying causes of such diseases will also help in the identification of new drug targets.
We are working towards defining the full spectrum of rare and common germline genetic variation responsible for neurological diseases, with a focus on gene-disrupting variants. We are performing a rigorous interrogation of the entire protein coding regions of the human genome in large collections of patients and controls, to identify genes that are recurrently disrupted by germline variants in disease cases but not (or rarely) in controls. In collaboration with overseas brain banks, we will also investigate the roles of somatic mutations in post-mortem diseased brain tissue, thus exploring an alternative mechanism through which gene-disrupting mutations may underlie a disease.
Our research will cover neurodegenerative diseases, childhood neurological diseases, mental health and cognition, and is also open to other genetically-tractable human traits. Newly-identified genes and variants will be followed up functionally and epidemiologically in our lab, in collaboration with other colleagues at LKC School of Medicine and GIS.
Research positions are available. Please send your CV and contact details of two referees to jianee.foo@ntu.edu.sg
Selected Publications
- Foo JN, Tan LC, Irwan ID, Au WL, Low HQ, Prakash KM, Ahmad-Annuar A, Bei J, Chan AY, Chen CM, Chen YC, Chung SJ, Deng H, Lim SY, Mok V, Pang H, Pei Z, Peng R, Shang HF, Song K, Tan AH, Wu YR, Aung T, Cheng CY, Chew FT, Chew SH, Chong SA, Ebstein RP, Lee J, Saw SM, Seow A, Subramaniam M, Tai ES, Vithana EN, Wong TY, Heng KK, Meah WY, Khor CC, Liu H, Zhang F, Liu J, Tan EK "Genome-wide association study of Parkinson's disease in East Asians." Hum Mol Genet 2016 Dec 22 Abstract
- Foo JN, Chung SJ, Tan LC, Liany H, Ryu HS, Hong M, Koh TH, Irwan ID, Au WL, Prakash KM, Aung T, Cheng CY, Chong SA, Khor CC, Lee J, Tai ES, Vithana EN, Wong TY, Song K, Liu J, Tan EK "Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease." Mov Disord 2016 Apr ; 31(4) : 484-7 Epub 2015 Dec 21 Abstract
- Li M*, Foo JN*, Wang JQ, Low HQ, Tang XQ, Toh KY, Yin PR, Khor CC, Goh YF, Irwan ID, Xu RC, Andiappan AK, Bei JX, Rotzschke O, Chen MH, Cheng CY, Sun LD, Jiang GR, Wong TY, Lin HL, Aung T, Liao YH, Saw SM, Ye K, Ebstein RP, Chen QK, Shi W, Chew SH, Chen J, Zhang FR, Li SP, Xu G, Tai ES, Wang L, Chen N, Zhang XJ, Zeng YX, Zhang H, Liu ZH, Yu XQ, Liu JJ "Identification of new susceptibility loci for IgA nephropathy in Han Chinese." Nat Commun 2015 ; 6 : 7270 *co-first authors Abstract
- Siddiqi S*, Foo JN*, Vu A, Azim S, Silver DL, Mansoor A, Tay SK, Abbasi S, Hashmi AH, Janjua J, Khalid S, Tai ES, Yeo GW, Khor CC "A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias." PLoS One 2014 ; 9(12) : e113258 Epub 2014 Dec 4 *co-first authors Abstract
- Foo JN, Tan LC, Liany H, Koh TH, Irwan ID, Ng YY, Ahmad-Annuar A, Au WL, Aung T, Chan AY, Chong SA, Chung SJ, Jung Y, Khor CC, Kim J, Lee J, Lim SY, Mok V, Prakash KM, Song K, Tai ES, Vithana EN, Wong TY, Tan EK, Liu J "Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations." Hum Mol Genet 2014 Jul 15 ; 23(14) : 3891-7 Epub 2014 Feb 23 Abstract
- Foo JN*, Smedby KE*, Akers NK, Berglund M, Irwan ID, Jia X, Li Y, Conde L, Darabi H, Bracci PM, Melbye M, Adami HO, Glimelius B, Khor CC, Hjalgrim H, Padyukov L, Humphreys K, Enblad G, Skibola CF, de Bakker PI, Liu J "Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk." Am J Hum Genet 2013 Jul 11 ; 93(1) : 167-72 Epub 2013 Jun 20 *co-first authors Abstract
- Tan DE*, Foo JN*, Bei JX*, Chang J*, Peng R, Zheng X, Wei L, Huang Y, Lim WY, Li J, Cui Q, Chew SH, Ebstein RP, Kuperan P, Lim ST, Ta o M, Tan SH, Wong A, Wong GC, Tan SY, Ng SB, Zeng YX, Khor CC, Lin D, Seow AL, Jia WH, Liu J "Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population." Nat Genet 2013 Jul ; 45(7) : 804-7 Epub 2013 Jun 9 *co-first authors Abstract
- Foo JN, Liu JJ, Tan EK "Whole-genome and whole-exome sequencing in neurological diseases." Nat Rev Neurol 2012 Sep ; 8(9) : 508-17 Epub 2012 Jul 31 Abstract
- Smedby KE*, Foo JN*, Skibola CF, Darabi H, Conde L, Hjalgrim H, Kumar V, Chang ET, Rothman N, Cerhan JR, Brooks-Wilson AR, Rehnberg E, Irwan ID, Ryder LP, Brown PN, Bracci PM, Agana L, Riby J, Cozen W, Davis S, Hartge P, Morton LM, Severson RK, Wang SS, Slager SL, Fredericksen ZS, Novak AJ, Kay NE, Habermann TM, Armstrong B, Kricker A, Milliken S, Purdue MP, Vajdic CM, Boyle P, Lan Q, Zahm SH, Zhang Y, Zheng T, Leach S, Spinelli JJ, Smith MT, Chanock SJ, Padyukov L, Alfredsson L, Klareskog L, Glimelius B, Melbye M, Liu ET, Adami HO, Humphreys K, Liu J "GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma." PLoS Genet 2011 Apr ; 7(4) : e1001378 Epub 2011 Apr 21 *co-first authors Abstract
- Ji W*, Foo JN*, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP "Rare independent mutations in renal salt handling genes contribute to blood pressure variation." Nat Genet 2008 May ; 40(5) : 592-9 Epub 2008 Apr 6 *co-first authors Abstract