Gai McMichael

Dr Gai McMichael

Grant-Funded Researcher (B)

Adelaide Medical School

Faculty of Health and Medical Sciences

Gai McMichael currently works with Prof Mark Boyd, Chair of Medicine at the Lyell McEwin Hospital. My role as research coordinator sees me working on several projects and concepts, including areas of infectious and chronic diseases and specifically how social determinants of health, i.e. those conditions in which people are born, grow, work, live, and age, and the wider set of forces and systems that shape the conditions of daily life, impact on health and health outcomes. Poor health outcomes have been extensively documented for individuals experiencing adverse social determinants of health. There is a clear gradient of increasing mortality and worse health outcomes in socioeconomic disadvantage areas. The Northern Area Local Health Network services a relatively disadvantaged and marginalised community. We are interested in research that will provide a better understanding of social and economic conditions that lead to adverse health outcomes, thereby facilitating appropriate measures for early interventions to identify people at risk to have adverse health outcomes. Ultimately we postulate that a better understanding of a persons daily circumstances and appropriate early interventions are likely to lead to better patient health outcomes.

My doctoral research was the first to explore the genetic contribution to cerebral palsy (CP) using whole-exome sequencing (WES) in a cohort of sporadic CP cases. I took an unbiased WES approach to identify potential pathogenic variants for CP in two groups of individuals with CP: sporadic cases (no previous family history of CP) and families with more than one individual with a confirmed diagnosis of CP. In total, 14% of CP cases, by strict criteria, had a potentially disease-causing gene variant. This is significantly higher than 2% previously reported. A further 44% of CP cases had candidate variants that are yet to be resolved in regard to their contribution to CP. Our overall findings suggest for the first time that CP is genetically heterogeneous, involving mutations, mainly de novo, in previously known neurodevelopmental genes and novel candidate CP genes. This work carried out in collaboration with Prof Richard Gibbs, Baylor College of Medicine (BMC) was a collaborative CP research project (in excess of US$1M) of which I was a key initiator. I was invited to work at BCM as
a Research Fellow for part of my PhD project, which resulted in three first author publications, including my seminal paper published in the highly ranked journal of Molecular Psychiatry (2015). My work has had a significant impact, in the medical and scientific community and is radically changing the understanding of CP causation.

Prior to my PhD I completed a Masters degree in Medical Science examining the contribution of copy number variants (CNVs) to CP. Identification of CNVs has provided new insights into human disease. My primary research focus was to investigate the contribution of heritable and de novo CNVs in CP using array comparative genome hybridization. This was a novel study and identified 20% of cases with a rare CNV potentially relevant to CP. Work on this project was conducted in collaboration with Prof Evan Eichler, Washington State, and Prof Christa Martin, Georgia, resulting in a first-author publication in the European Journal of Human Genetics.

My background prior to my role in CP research was in plant science genetics, specifically constructing high-density genetic maps and QTL analysis of disease resistance traits in new barley crop varieties. This role provided me with extensive experience with SNP and microarray methodologies resulting in three publications, which are still highly cited and have had a major impact on plant breeding programs.

  • Appointments

    Date Position Institution name
    2017 - ongoing Research coordinator The University of Adelaide at the Lyell McEwin Hospital
    2015 - 2016 Senior scientist The Australian Genome Research Facility
    2006 - 2015 Senior scientist The University of Adelaide at the Women's and Children's Hospital
    1998 - 2006 Research Officer The University of Adelaide
  • Awards and Achievements

    Date Type Title Institution Name Country Amount
    2016 Award Dean's Commendation for Doctoral Thesis Excellence The University of Adelaide Australia -
    2013 Scholarship Robert F Seamark Scholarship for most outstanding PhD student The University of Adelaide Australia -
    2011 Award Most outstanding contribution to the School of Paediatric and Reporductive Health The University of Adelaide Australia -
    2009 Research Award Best scientific paper presented at the 3rd International CP Conference, Sydney The University of Adelaide Australia -
    2003 Research Award Best Scientific Poster presented at the 8th Barley Technical Symposium, Adelaide The University of Adelaide Australia -
  • Education

    Date Institution name Country Title
    2012 - 2016 The University of Adelaide Australia PhD
    2010 - 2011 The University of Adelaide Australia Master of Philosophy (Medical science)

2016 Research Foundation Cerebral Palsy Alliance "Imagine Cerebral Palsy Genome and Connectome Study $201,600AUD

2012 Women's and Children's Foundation Research Project Grant "Gene discovery in familial and isolated cases of cerebral palsy using massively parallel sequencing" $49,915AUD

2012 Brain Foundation Research Grant "Inflammation in newborns as a cause of cerebral palsy" $50,000AUD

2011 Women's and Children's Foundation Research Project Grant "Are genomic copy number variations associated with cerebral palsy?" $49,761AUD

2010 - 2012 Research Foundation of Cerebral Palsy Alliance "The genetic origins of cerebral palsy" $600,000AUD


  • Committee Memberships

    Date Role Committee Institution Country
    2015 - ongoing Member Strategic planning for the future of cerebral palsy genomics, Cerebral Palsy Alliance and Garvan Institute of Medical Research Cerebral Palsy Alliance and Garvan Institute of Medical Research Australia
    2014 - ongoing Member Robinson Research Institute Syposium The Universtiy of Adelaide Australia
    2012 - ongoing Member Robinson Research Institute Planning Group The University of Adelaide Australia
  • Memberships

    Date Role Membership Country
    2016 - ongoing - Australasian Genomic Technology Association -
    2014 - ongoing - Human Genetics Society of Australasia -
  • Position: Grant-Funded Researcher (B)
  • Phone: 83132028
  • Email:
  • Fax: 81829654
  • Campus: University of Adelaide Education Centre
  • Building: Lyell McEwin Hospital, floor 2
  • Org Unit: Medical Specialties

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