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.
Year Citation 2018 van Eyk, C., Corbett, M., & Maclennan, A. (2018). The emerging genetic landscape of cerebral palsy.. In D. Geschwind, H. Paulson, & C. Klein (Eds.), Neurogenetics (Vol. 147, pp. 331-342).
DOI Scopus3 Europe PMC1
2009 Crawford, J., Partington, M., Corbett, M., Lower, K., & Gecz, J. (2009). Börjeson-Forssman-Lehmann Syndrome. In P. Beales, I. Farooqi, & S. O'Rahilly (Eds.), Genetics of Obesity Syndromes (pp. 187-200). New York: Oxford University Press.
Year Citation 2018 Kruer, M., Jin, S., Bakhtiari, S., Lewis, S., Zeng, X., Sierant, M., . . . MacLennan, A. (2018). Damaging Genomic Variants Constitute a Major Risk Factor for Cerebral Palsy. In ANNALS OF NEUROLOGY Vol. 84 (pp. S419). Chicago, IL: WILEY. 2016 Pham, D., Kolc, K. L., Schulz, R., Corbett, M., Gardner, A., Pitson, S., . . . Gecz, J. (2016). In vitro and in silico assessment of PCDH19 variation. In Human Epilepsy - Understanding biology to improve outcomes. Vibe Hotel, Marysville VIC. 2013 Pandolfo, M., Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci and are a common cause of familial non-lesional focal epilepsy. In NEUROLOGY Vol. 80 (pp. E203-E204). San Diego, CA: LIPPINCOTT WILLIAMS & WILKINS. 2011 Berkovic, S., Corbett, M., Schwake, M., Bahlo, M., Dibbens, L., Lin, M., . . . Gecz, J. (2011). A NEW FORM OF PROGRESSIVE MYOCLONUS EPILEPSY WITH EARLY ATAXIA AND SCOLIOSIS DUE TO MUTATION IN THE GOLGI PROTEIN GOSR2. In EPILEPSIA Vol. 52 (pp. 94-95). Rome, ITALY: WILEY-BLACKWELL. 2008 Tarpey, P., Dibbens, L., Hynes, K., Smith, R., Edkins, S., Teague, J., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. In JOURNAL OF MEDICAL GENETICS Vol. 45 (pp. S17). Univ York, York, ENGLAND: BMJ PUBLISHING GROUP. 2003 Hardeman, E., Nguyen, M., Corbett, M., Ghoddusi, M., Joya, J., Gunning, P., & North, K. (2003). A mouse model for severe actin nemaline myopathy. In NEUROMUSCULAR DISORDERS Vol. 13 (pp. 620). SZEGED, HUNGARY: PERGAMON-ELSEVIER SCIENCE LTD. 2003 Sanoudou, D., Corbett, M., Haslett, J., Han, M., Kunkel, L., Hardeman, E., & Beggs, A. (2003). Muscle specific transcriptional changes in nemaline myopathy mice. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 73 (pp. 439). LOS ANGELES, CALIFORNIA: UNIV CHICAGO PRESS.
Year Citation 2013 Tsai, L., Schwake, M., Corbett, M. A., Gecz, J., Berkovic, S., & Shieh, P. B. (2013). GOSR 2: a novel form of Congenital Muscular Dystrophy. Poster session presented at the meeting of Programme and abstracts of the 18th International Congress of the World Muscle Society, as published in Neuromuscular Disorders. Pacific Grove, California: Elsevier.
2013 Lomax, L. B., Bayly, M., Hjalgrim, H., Moller, R., Vlaar, A. M., Aaberg, K., . . . Berkovic, S. (2013). 'North Sea' Progressive Myoclonus Epilepsy: Phenotype of Subjects with GOSR2 Mutation. Poster session presented at the meeting of NEUROLOGY. San Diego, CA: LIPPINCOTT WILLIAMS & WILKINS. 2013 Quach, A., Lester, S., Smith, A., Hissaria, P., Al Kindi, M., Heddle, R., . . . Costabile, M. (2013). A HAPLOTYPE/DIPLOTYPE ASSOCIATED WITH DELAYED TACI UPREGULATION AND INCREASED RISK OF COMMON VARIABLE IMMUNODEFICIENCY. Poster session presented at the meeting of INTERNAL MEDICINE JOURNAL. WILEY-BLACKWELL. 2013 Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Montreal, CANADA: WILEY-BLACKWELL.
- 2016. Genetic Pathways to Cerebral Palsy: Alastair MacLennan, Clare van Eyk, Mark Corbett, Morgan Newman, Christopher Barnett. NHMRC. $1,314,158
- 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
- 2014. Whole genome sequencing as a diagnostic and research tool to study neurodevelopmental disorders. Channel 7 Children’s Research Foundation, $74,000
- 2012. A mutation in LAS1L causes Wilson-Turner Syndrome.Women’s and Children’s Hospital Foundation, $41,500
- 2011. Conditional knockout of Phf6, a mouse model for Börjeson Forssman Lehman Syndrome. Women’s and Children’s Hospital Foundation, $17,480
- 2011. A study of an intellectual disability and obesity syndrome. Channel 7 Children’s Research Foundation, $60,000
- 2008. Novel mechanism of mutation by recurrent DNA duplication in patients with intellectual disability; prevalence and biological significance. WCH foundation project grant. $50,000.
- 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
Current Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2019 Principal Supervisor Investigating novel methods to improve the identification of disease-causing variants involved in neurodevelopmental disorders Doctor of Philosophy Doctorate Full Time Mr Thomas Michael Litster 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
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
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