Western Australian Institute for Medical Research (WAIMR)


http://www.waimr.uwa.edu.au

Dr Alka Saxena

Alka Saxena

Dr Alka Saxena is a NHMRC Peter Doherty Fellow in the Laboratory for Molecular Genetics. Alka graduated in Medicine from Shivaji University in India and worked as a medical officer for 7 years before migrating to Australia in December 1998. She obtained a PhD at Melbourne University under the supervision of Professor Andy Choo at the Murdoch Childrens Research Institute in 2002. During her PhD, she discovered that chromatin modification proteins poly ADP ribose polymerases 1 and 2 localised to the centromere and that DNA repair at centromeres was conducted by these proteins during mitosis.

Her first post-doctoral position was with Professor Steve Wilton at the experimental molecular medicine unit at the centre for neuromuscular and neurological disorders (CNND) in Perth. She designed three exon specific antisense oligonucleotides for the treatment of duchenne muscular dystrophy. The oligonucleotides were further optimized and patented for clinical application.

Since late 2003 Alka has been working on Methyl CpG binding protein 2 (MeCP2) and Rett Syndrome (RTT). She has developed flow-cytometry based assays for the assessment of MeCP2 and fragile X mental retardation protein (FMRP) in peripheral blood lymphocytes which are currently being evaluated for diagnostic applications. A modified HUMARA assay developed by her is being applied to search for stem cell derived epithelial cells in lung transplant recipients in collaboration with Dr Dan Chambers from the lung transplant unit at Royal Perth Hospital. Collaborating with Dr Robin Scaife from the Laboratory for Cancer Medicine at WAIMR, she has recently discovered a microtubule associated role for MeCP2 which explains the clinical-neuropathological features observed in Rett syndrome patients. Her work opens a whole new field in RTT research and offers direction about the class of drugs to examine for therapeutic efficacy in the wider range of devastating clinical disorders associated with MeCP2 expression defects for which no treatment is currently available.

Qualifications

1992MBBS - Bachelor of Medicine and Bachelor of Surgery, Shivaji University, India
2003PhD - Department of Paediatrics, University of Melbourne, Australia
Thesis Title: "Chromatin modification proteins : an analysis of poly (ADP-ribose) polymerases 1 and 2 at mammalian centromers"

Research Interests

  • Cell biology
  • Rett Syndrome
  • Methyl CpG binding protein 2 related neuro-developmental disorders
  • Epigenetics in health and disease
  • Translational research, from bench to the clinic

Scientific Involvement

  • Human Genetics Society of Australasia (HGSA) - Member.
  • Australian Society for Medical Research - Member.
  • Chromatin and DNA Methylation Conference (CDMC) - Key Organiser for the September 2005 Conference held in Perth.
  • Australian Epigenetics Scientific Conference - Member of the Organising Committee for the first national conference to be held in Perth in November 2007.

Top 10 Publications

  1. Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. 2006. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics 43(6):470-7. [NCBI PubMed Entry]
  2. Saxena A, Wong LH, Kalitsis P, Earle E, Shaffer LG, Choo KH. 2002. Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc. Human Molecular Genetics 11(19):2319-29. [NCBI PubMed Entry]
  3. Saxena A, Saffery R, Wong LH, Kalitsis P, Choo KH. 2002. Centromere proteins Cenpa, Cenpb, and Bub3 interact with poly(ADP-ribose) polymerase-1 protein and are poly(ADP-ribosyl)ated. Journal of Biological Chemistry 277(30):26921-6. [NCBI PubMed Entry]
  4. Earle E*, Saxena A*, MacDonald A*, Hudson DF, Shaffer LG, Saffery R, Cancilla MR, Cutts SM, Howman E, Choo KH. 2000. Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase. Human Molecular Genetics 9(2):187-94. [NCBI PubMed Entry]

* Shared First Authorship