Mark Corbett

Dr Mark Corbett

Adelaide Medical School

Faculty of Health and Medical Sciences

Eligible to supervise Masters and PhD - email supervisor to discuss availability.


My primary research aim is to map the genetic landscape of neurological disorders, with a view to understanding the basic biology of cognition and to provide an in-road for therapies for these devastating disorders.

My PhD training was centred on the analysis of a transgenic mouse model for the most commonly observed congenital myopathy (nemaline myopathy). This project showed me the value and power of an accurate model to facilitate understanding of the aetiology of human genetic disease from physiology down to the molecular level.

I have built my career in human genetics by implicating a host of new genes in intellectual disability, epilepsy and other neurodevelopmental disorders. These individually rare but collectively common disorders affect about 3% of the population and have a huge social, financial and welfare burden on those affected.

My research group uses massively parallel sequencing data to identify novel disease causing mutations and measure gene expression with bioinformatics analysis pipelines developed in-house. We use the accumulated genetic, gene expression, protein interaction and animal disease model data extracted from public databases to prioritise which genes are most likely to be the culprits in disease causation. The genes we have found to date tie the aetiology of neurodevelopmental disorders to fundamental cell biology processes such as gene expression, RNA metabolism, protein degradation and regulation of the cytoskeleton. Our work has contributed to the translation of these new technologies into clinical genetic testing.

On discovery of a mutation, we further test its disease causing capacity by designing and carrying out experiments using molecular and cell biology based assays. These assays use cell lines derived directly from patients where possible but we also make use of animal models when necessary and appropriate.

  1. 2016. Genetic Pathways to Cerebral Palsy: Alastair MacLennan, Clare van Eyk, Mark Corbett, Morgan Newman, Christopher Barnett. NHMRC. $1,314,158
  2. 2016. Deciphering the non-coding code: Finding the genetic basis for neurological disorders in large, well-studied families. Women’s and Children’s Hospital Foundation, $75,000
  3. 2014. Whole genome sequencing as a diagnostic and research tool to study neurodevelopmental disorders. Channel 7 Children’s Research Foundation, $74,000
  4. 2012. A mutation in LAS1L causes Wilson-Turner Syndrome.Women’s and Children’s Hospital Foundation, $41,500
  5. 2011. Conditional knockout of Phf6, a mouse model for Börjeson Forssman Lehman Syndrome. Women’s and Children’s Hospital Foundation, $17,480
  6. 2011. A study of an intellectual disability and obesity syndrome.  Channel 7 Children’s Research Foundation, $60,000
  7. 2008.  Novel mechanism of mutation by recurrent DNA duplication in patients with intellectual disability; prevalence and biological significance.  WCH foundation project grant.  $50,000.
  8. 2006. Characterisation of PHF6 function and its role in X-linked Mental Retardation.Channel 7 Children’s Relief Fund, Early Career Research Grant. $15,000
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  • Current Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2017 Principal Supervisor Genetic and Environmental Interactions in the Causation of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Ms Sayaka Kayumi
  • Past Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2014 - 2018 Principal Supervisor The Genetic Basis of Malformation of Cortical Development Syndromes: Primary Focus on Aicardi Syndrome Doctor of Philosophy Doctorate Full Time Miss Thuong Thi Ha
    2011 - 2013 Co-Supervisor The Role of UPF3B and the Nonsense-Mediated mRNA Decay Pathway in Pathology of Intellectual Disability Doctor of Philosophy Doctorate Full Time Mr Sonny Nguyen
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  • Committee Memberships

    Date Role Committee Institution Country
    2017 - ongoing Member Adelaide Protein Group Adelaide Protein Group Australia
    2015 - ongoing Treasurer Adelaide Protein Group Adelaide Protein Group Australia
    2012 - 2015 Chair Adelaide Protein Group Adelaide Protein Group Australia
    2008 - 2012 Treasurer Adelaide Protein Group Adelaide Protein Group Australia
    2006 - ongoing Member Women's and Children's Health Network Animal Ethics Committee Women's and Children's Health Network Australia
  • Phone: 83137938
  • Email: mark.corbett@adelaide.edu.au
  • Campus: North Terrace
  • Building: Adelaide Health and Medical Sciences, floor 8
  • Room: WS8071.17
  • Org Unit: Adelaide Medical School

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External Profiles