Duyen Pham

Duyen Pham
Adelaide Medical School
Faculty of Health and Medical Sciences

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Duyen Pham

Contribution to my field of research: I have made significant contributions in the field of cancer biology and human genetic diseases. I have published 11 papers, 7 research papers, 2 method papers and 2 book chapters. Over the last 5 years, I have published in high-ranking journals, including, Hum Mol Genet, Oncogene, Oncotarget and Eur J Hum Genet. My papers have been cited >120 times since 2012. I was the first to implicate a novel role of PCDH19, a cell communication cell adhesion molecule in gene expression. I am now turning my attention to discovery proteins and gene networks in relation to Girls Clustering Epilepsy.

Collaborations: I have maintained strong collaborative links with Prof Stuart Pitson and Dr Melissa Pitman (who is an expert in protein structure modelling) from the Centre for Cancer Biology and recently we have collaborated in the research project involving in silico and in vitro assessment of PCDH19 gene variations. I have recently established a collaboration network with Prof Sam Berkovic and Dr Slave Petrovski from the Epi4k consortium to have access to various different PCDH19 variants that are likely important in other developmental disorders involving epilepsies and intellectual disability, which we have, include in our studies.

Language Competencies

Language Competency
English Can read, write, speak, understand spoken and peer review
Vietnamese Can read, write, speak, understand spoken and peer review


Date Institution name Country Title
University of South Australia, Adelaide Australia Bachelor of Medical & Pharmaceutical Biotechnology
University of Adelaide, Adelaide Australia PhD in Biomedical Sciences
University of South Australia, Adelaide Australia Bachelor of Health Science (Honours)


Biochemistry & Molecular Biology, Genetics, Neurogenetics, Neurosciences


Date Citation
2017 Pham,DH, Tan,CC, Homan,CC, Kolc,KL, Corbett,MA, McAninch,D, Fox,AH, Thomas,PQ, Kumar,R, Gecz,J et al, 2017, Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)., Human molecular genetics, 26, 11, 2042-2052 10.1093/hmg/ddx094
2016 Kumar,R, Ha,T, Pham,D, Shaw,M, Mangelsdorf,M, Friend,K, Hobson,L, Turner,G, Boyle,J, Field,M et al, 2016, A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability, European Journal of Human Genetics, 24, 11, 1612-1616 10.1038/ejhg.2016.46
2016 Neubauer,H, Pham,D, Zebol,J, Moretti,P, Peterson,A, Leclercq,T, Chan,H, Powell,J, Pitman,M, Samuel,M et al, 2016, An oncogenic role for sphingosine kinase 2, Oncotarget, 7, 40, 64886-64899 10.18632/oncotarget.11714
2015 Pitman,M, Powell,J, Coolen,C, Moretti,P, Zebol,J, Pham,D, Finnie,J, Don,A, Ebert,L, Bonder,C et al, 2015, A selective ATP-competitive sphingosine kinase inhibitor demonstrates anti-cancer properties, Oncotarget, 6, 9, 7065-7083 10.18632/oncotarget.3178
2015 Tan,C, Shard,C, Ranieri,E, Hynes,K, Pham,D, Leach,D, Buchanan,G, Corbett,M, Shoubridge,C, Kumar,R et al, 2015, Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency, Human Molecular Genetics, 24, 18, 5250-5259 10.1093/hmg/ddv245
2014 Pham,D, Powell,J, Gliddon,B, Moretti,P, Tsykin,A, Van der Hoek,M, Kenyon,R, Goodall,G, Pitson,S, 2014, Enhanced expression of transferrin receptor 1 contributes to oncogenic signalling by sphingosine kinase 1, Oncogene, 33, 48, 5559-5568 10.1038/onc.2013.502
2010 Woodcock,J, Ma,Y, Coolen,C, Pham,D, Jones,C, Lopez,A, Pitson,S, 2010, Sphingosine and FTY720 directly bind pro-survival 14-3-3 proteins to regulate their function, Cellular Signalling, 22, 9, 1291-1299 10.1016/j.cellsig.2010.04.004
2008 Pham,D, Moretti,P, Goodall,G, Pitson,S, 2008, Attenuation of leakiness in doxycycline-inducible expression via incorporation of 3 ' AU-rich mRNA destabilizing elements, Biotechniques, 45, 2, 155-162 10.2144/000112896

Book Chapters

Date Citation
2016 Pham,D, Tan,C, Homan,C, Jolly,L, Gecz,J, 2016, Protocadherin Mutations in Neurodevelopmental Disorders, Elsevier, London, pp. 221-231 10.1016/B978-0-12-800109-7.00014-5
2013 Pitman,MR, Jarman,KE, Leclercq,TM, Pham,DH, Pitson,SM, 2013, Sphingosine Kinases: Biochemistry, Regulation, and Roles, Wiley, Hoboken, New Jersey; USA, pp. 153-183 10.1002/9781118531426.ch9
2012 Pitman,M, Pham,D, Pitson,S, 2012, Isoform-selective assays for sphingosine kinase activity, Springer, United States, pp. 21-31 10.1007/978-1-61779-800-9_2
  • 2016. Investigation of PCDH19 protein and gene networks in neurodevelopmental disorders. WCH Foundation Research Project Grant $75,000 
  • 2015. Genotype phenotype investigations in PCDH19-Female Epilepsy. WCH Foundation Research Project Grant $74,920


I am currently supervising a research assistant, co-supervising a PhD student Ms Kristy Kolc, guiding her in experimental techniques and research applications. During my tenure in the Neurogenetics research group I have supervised a placement student, co-supervised an honours student and have actively been involved in the development and training of other staff and research students in the group.

North Terrace
Org Unit
Paediatrics and Reproductive Health