Duyen Pham

Duyen Pham
Adelaide Medical School
Faculty of Health and Medical Sciences

I have a strong interest and passion for uncovering the molecular mechanism(s) of early childhood neurodevelopmental disorders (NDDs) including epilepsy, intellectual disability and autism spectrum disorders (ASD). As a mother of a son with ASD, these debilitating conditions are very close to my heart. I am committed to working towards translating research outcomes to benefit those children and families who are affected by girls clustering epilepsy (GCE) and other NDDs.

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Duyen Pham

I have a strong interest and passion for uncovering the molecular mechanism(s) of early childhood neurodevelopmental disorders (NDDs) including epilepsy, intellectual disability and autism spectrum disorders (ASD). As a mother of a son with ASD, these debilitating conditions are very close to my heart. I am committed to working towards translating research outcomes to benefit those children and families who are affected by girls clustering epilepsy (GCE) and other NDDs.

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.

Awards and Achievements

Date Type Title Institution Name Amount
2017 Award Travel Grants Program Robinson Research Institute, The University of Adelaide $1500
2014 Award Best Primary Research Paper Centre for Cancer Biology, UniSA

Language Competencies

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

Education

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

Research Interests

Biochemistry & Molecular Biology, Genetics, Neurogenetics, Neurosciences

Journals

Year Citation
2017 Pham, D., Tan, C., Homan, C., Kolc, K., Corbett, M., McAninch, D. ... Gecz, J. (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 Neubauer, H., Pham, D., Zebol, J., Moretti, P., Peterson, A., Leclercq, T. ... Pitson, S. (2016). An oncogenic role for sphingosine kinase 2. Oncotarget, 7, 40, 64886-64899.
10.18632/oncotarget.11714
2016 Kumar, R., Ha, T., Pham, D., Shaw, M., Mangelsdorf, M., Friend, K. ... Gecz, J. (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
2015 Pitman, M., Powell, J., Coolen, C., Moretti, P., Zebol, J., Pham, D. ... Pitson, S. (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. ... Gecz, J. (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. ... 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

Year Citation
2016 Pham, D., Tan, C., Homan, C., Jolly, L. & Gecz, J. (2016). Protocadherin Mutations in Neurodevelopmental Disorders. In C. Sala & C. Verpelli (Eds.), Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability (pp. 221-231). London: Elsevier.
10.1016/B978-0-12-800109-7.00014-5
2013 Pitman, M. R., Jarman, K. E., Leclercq, T. M., Pham, D. H. & Pitson, S. M. (2013). Sphingosine Kinases: Biochemistry, Regulation, and Roles. In J. Chun, T. Hla, W. Moolenaar & S. Spiegel (Eds.), Lysophospholipid Receptors: Signaling and Biochemistry (pp. 153-183). Hoboken, New Jersey; USA: Wiley.
10.1002/9781118531426.ch9
2012 Pitman, M., Pham, D. & Pitson, S. (2012). Isoform-selective assays for sphingosine kinase activity. In A. Pebay & K. Turksen (Eds.), Sphingosine-1-Phosphate: Methods and Protocols (pp. 21-31). United States: Springer.
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.

Memberships

Date Role Membership Country
2016 - ongoing Member Human Genetics Society of Australasia Australia
2006 - ongoing Member Australian Society of Biochemistry and Molecular Biology (ASBMB) Australia

Committee Memberships

Date Role Committee Institution Country
2017 - ongoing Council Robinson Research Institute Early and Mid-Career Research Council (EMCRC) Robinson Research Institute, The University of Adelaide Australia
2016 - ongoing Member Adelaide protein group (part of the ASBMB) Australian Society of Biochemistry and Molecular Biology (ASBMB) Australia
Phone
83137955
Campus
North Terrace
Building
AHMS
Room Number
WS8071.12
Org Unit
Paediatrics and Reproductive Health

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