Gai McMichael

Dr Gai McMichael

Grant-Funded Researcher (B)

School of Medicine

College of Health


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.RESEARCH ACHIEVEMENTSMy 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 asa 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.

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

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 -

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)

Year Citation
2024 McMichael, G., Cusack, L., Andina Munawar, D., Boyd, M., Palmer, L., Lim, H. S., & Mahajan, R. (2024). Atrial Fibrillation Health Literacy Questionnaire (AFHLQ): The development of an AF-specific health literacy questionnaire. IJC Heart & Vasculature, 50, 101322.
DOI Scopus2 Europe PMC2
2022 Freeman, T., Fisher, M., Foley, K., Boyd, M. A., Ward, P. R., McMichael, G., . . . Dekker, G. (2022). Barriers to digital health services among people living in areas of socioeconomic disadvantage: Research from hospital diabetes and antenatal clinics.. Health Promot J Austr, 33(3), 751-757.
DOI Scopus10 WoS5 Europe PMC4
2022 Walls, A., Boyd, M., McMichael, G., & Smithers, L. G. (2022). Can social risks in early life predict children’s health and academic outcomes? An analysis of the Longitudinal Study of Australian Children. SSM - Population Health, 17, 1-8.
DOI Scopus3 WoS3 Europe PMC3
2021 Neadley, K. E., McMichael, G., Freeman, T., Browne-Yung, K., Baum, F., Pretorius, E., . . . Boyd, M. A. (2021). Capturing the social determinants of health at the individual level: a pilot study.. Public Health Research & Practice, 31(2), e30232008-1-e30232008-7.
DOI Scopus17 WoS18 Europe PMC15
2019 van Eyk, C. L., Corbett, M. A., Frank, M. S. B., Webber, D. L., Newman, M., Berry, J. G., . . . Gecz, J. (2019). Targeted resequencing identifies genes with recurrent variation in cerebral palsy. npj Genomic Medicine, 4(1), 27-1-27-11.
DOI Scopus29 WoS24 Europe PMC23
2015 McMichael, G., Bainbridge, M., Haan, E., Corbett, M., Gardner, A., Thompson, S., . . . MacLennan, A. (2015). Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2), 176-182.
DOI Scopus194 WoS161 Europe PMC142
2013 McMichael, G., Haan, E., Gardner, A., Yap, T., Thompson, S., Ouvrier, R., . . . MacLennan, A. (2013). NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. European Journal of Medical Genetics, 56(9), 506-509.
DOI Scopus16 WoS11 Europe PMC12
2013 O'Callaghan, M., MacLennan, A., McMichael, G., Haan, E., & Dekker, G. (2013). Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysis. Pediatric Research, 74(4), 433-438.
DOI Scopus9 WoS7 Europe PMC5
2013 McMichael, G., Girirajan, S., Moreno-De-Luca, A., Gecz, J., Shard, C., Nguyen, L., . . . MacLennan, A. (2013). Rare copy number variation in cerebral palsy. European Journal of Human Genetics, 22(1), 40-45.
DOI Scopus68 WoS57 Europe PMC59
2013 O'Callaghan, M., MacLennan, A., Gibson, C., McMichael, G., Haan, E., Broadbent, J., . . . Dekker, G. (2013). Genetic and clinical contributions to cerebral palsy: A multi-variable analysis. Journal of Paediatrics and Child Health, 49(7), 575-581.
DOI Scopus20 WoS10 Europe PMC10
2013 Hirata, H., McMichael, G., Haan, E., MacLennan, A., Yap, T., Nguyen, L., . . . Gecz, J. (2013). ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. American Journal of Human Genetics, 92(5), 681-695.
DOI Scopus73 WoS70 Europe PMC67
2012 McMichael, G., MacLennan, A., Gibson, C., Alvino, E., Goldwater, P., Haan, E., & Dekker, G. (2012). Cytomegalovirus and Epstein–Barr virus may be associated with some cases of cerebral palsy. The Journal of Maternal - Fetal & Neonatal Medicine, 25(10), 2078-2081.
DOI Scopus18 WoS10 Europe PMC10
2012 O'Callaghan, M., MacLennan, A., Gibson, C., McMichael, G., Haan, E., Broadbent, J., . . . Dekker, G. (2012). Fetal and maternal candidate single nucleotide polymorphism associations with Cerebral Palsy: a case-control study. Pediatrics, 129(2), E414-E423.
DOI Scopus33 WoS23 Europe PMC23
2011 O'Callaghan, M., MacLennan, A., Gibson, C., McMichael, G., Haan, E., Broadbent, J., . . . Dekker, G. (2011). Epidemiologic associations with cerebral palsy. Obstetrics and Gynecology, 118(3), 576-582.
DOI Scopus99 WoS89 Europe PMC71
2011 McMichael, G., Highet, A., Gibson, C., Goldwater, P., O'Callaghan, M., Alvino, E., & MacLennan, A. (2011). Comparison of DNA extraction methods from small samples of newborn screening cards suitable for retrospective perinatal viral research. Journal of Biomolecular Techniques, 22(1), 5-9.
Scopus8 Europe PMC4
2011 O'Callaghan, M., MacLennan, A., Gibson, C., McMichael, G., Haan, E., Broadbent, J., . . . Dekker, G. (2011). The Australian cerebral palsy research study - Protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy. Journal of Paediatrics and Child Health, 47(3), 99-110.
DOI Scopus12 WoS10 Europe PMC8
2009 McMichael, G., Gibson, C., O'Callaghan, M., Goldwater, P., Dekker, G., Haan, E., & MacLennan, A. (2009). DNA from Buccal Swabs Suitable for High-Throughput SNP Multiplex Analysis. Journal of Biomolecular Techniques, 20(5), 232-235.
Scopus33 Europe PMC25
2009 Djukic, M., Gibson, C., MacLennan, A., Goldwater, P., Haan, E., McMichael, G., . . . Casey, G. (2009). Genetic susceptibility to viral exposure may increase the risk of cerebral palsy. Australian & New Zealand Journal of Obstetrics & Gynaecology, 49(3), 247-253.
DOI Scopus30 WoS28 Europe PMC26
2008 McMichael, G., Gibson, C., Goldwater, P., Haan, E., Priest, K., Dekker, G., & MacLennan, A. (2008). Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a caucasian population. Human Genetics, 124(4), 411-416.
DOI Scopus33 WoS28 Europe PMC28
2008 Hayden, M., Nguyen, T., Waterman, A., McMichael, G., & Chalmers, K. (2008). Application of multiplex-ready PCR for fluorescence-based SSR genotyping in barley and wheat. Molecular Breeding, 21(3), 271-281.
DOI Scopus104 WoS100 Europe PMC44
2007 Hearnden, P., Eckermann, P., McMichael, G., Hayden, M., Eglinton, J., & Chalmers, K. (2007). A genetic map of 1,000 SSR and DArT markers in a wide barley cross. Theoretical and Applied Genetics, 115(3), 383-391.
DOI Scopus80 WoS72 Europe PMC50
2003 Read, B., Raman, H., McMichael, G., Chalmers, K., Ablett, G., Platz, G., . . . Lance, R. (2003). Mapping and QTL analysis of the barley population Sloop x Halcyon. Australian Journal of Agricultural Research, 54(11-12), 1145-1153.
DOI Scopus35 WoS33

Year Citation
2015 McMichael, G. L., Turakulov, R., Gorden, L., & et al. (2015). Development of robust, low DNA input genotyping by sequencing (GBS). In Conference proceedings-Australasian Genomic Technologies Association. Auckland, New Zealand.
2014 McMichael, G. L., Haan, E., Webster, R., & et al. (2014). Genetic variants identified by exome sequencing in familial and sporadic cases of cerebral palsy. In Developmental Medicine and Child Neurology. Hunter Valley, New South Wales: Mac Keith Press.
2014 McMichael, G. L., Girirajan, S., Moreno-De-Luca, A., & et al. (2014). Rare copy number variants may contribute to cerebral palsy. In Conference proceedings-7th Biennial Conference of the Australasian Academy of Cerebral Palsy and Developmental Medicine. Hunter Valley, New South Wales.
2013 McMichael, G. L., Gecz, J., & Haan, E. (2013). Genetic variants identified in cerebral palsy. In Conference proceedings-17th Annual Congress Perinatal Society of Australia and New Zealand. Adelaide, South Australia.
2013 McMichael, G. L., Giriajan, S., Moreno-De-Luca, A., & et al. (2013). Rare copy number variants may contribute to cerebral palsy. In Conference proceedings-Lorne Genome. Victoria, Australia.
2013 McMichael, G. L., Haan, E., Girirajan, S., & et al. (2013). Genetic variants identified in familial and sporadic cases of cerebral palsy. In Conference proceedings-16th International workshop on Fragile X and other early onset cognitive disorders. Barossa Valley, South Australia.
2012 McMichael, G. L., Gibson, C., Haan, E., & et al. (2012). Cytomegalovirus and Epstein-Barr Virus are associated with some cases of cerebral palsy. In Conference proceedings-4th International Cerebral Palsy Conference. Pisa, Italy.
2012 McMichael, G. L., Girirajan, S., Moreno-De-Luca, A., & et al. (2012). Rare copy number variants in cerebral palsy. In Conference proceedings-4th International Cerebral Palsy Conference. Pisa, Italy.
2012 McMichael, G. L., Bainbridge, M., Haan, E., & et al. (2012). Genetic contribution to cerebral palsy. In Conference proceedings-64th Annual Meeting of the American Society of Human Genetics. San Diego, CA, USA.
2011 McMichael, G. L., Moreno-De-Luca, A. H., & Girirajan, S. (2011). Copy number variants in CP. In Conference Proceedings-12th International Congress Human Genetics. Montreal, Canada.
2010 O'Callaghan, M. E., MacLennan, A. H., Goldwater, P. N., McMichael, G., & et al. (2010). Australian Collaborative Study of genomic and environmental factors associated with CP. In Conference Proceedings. Sydney, Australia.
2010 McMichael, G. L., Gibson, C. S., MacLennan, A. H., & et al. (2010). Apolipoprotein E genotype is not associated with CP. In Developmental Medicine and Child Neurology. Sydney, Australia: Mac Keith Press.
2010 McMichael, G. L., Gibson, C. S., Goldwater, P. N., & et al. (2010). Genetic and environmental risk factors that contribute to CP. In Developmental Medicine and Child Neurology. Auckland, New Zealand: Mac Keith Press.
2008 McMichael, G. L., Gibson, C. S., MacLennan, A. H., & et al.,. (2008). Stored cord serum: is it an additional resource for research into fetal viral exposure?. In Australian Society for Medical Research Conference, SA Branch. Adelaide, Australia.
2008 Djukic, M., Gibson, C. S., McMichael, G. L., & et al.,. (2008). Is there a genomic basis to CP? Seeking candidate genes. In Australian Society for Medical Research Conference, SA Branch. Adelaide, Australia.
2008 McMichael, G. L., Gibson, C. S., MacLennan, A. H., & et.al.,. (2008). Stored cord serum: is it an additional resource for research into fetal viral exposure?. In Perinatal Society of Australia and New Zealand 12th Annual Congress. Gold Coast, Australia.
2005 Hearnden, P., Eckermann, P., Hayden, M., McMichael, G., Eglinton, J., & Chalmers, K. (2005). A high density genetic map for barley integrating SSR and DArT markers. In 12th Australian Barley Technical Symposium Conference Proceedings, 11-14 September 2005: [CD-ROM] (pp. 7 pages). Hobart, Tasmania: Australian Barley Association.
2005 McMichael, G., Eglinton, J., Barr, A., & Chalmers, K. (2005). Identification of Marker Trait Associations in a Barley Four Way Cross. In 12th Australian Barley Technical Symposium Conference Proceedings. Hobart, Tasmania: Australian Barley Association.
2004 Eglinton, J., Coventry, S., Mather, D., Kretschmer, J., & McMichael, G. (2004). Advanced Backcross QTL Analysis in Barley. In 9th International Barley Genetics Symposium : book of abstracts (pp. 65). Brno, Czech Republic: Czech Journal of Genetics and Plant Breeding.
2003 McMichael, G., Eglinton, J., Barr, A., & Chalmers, K. (2003). Developing marker trait associations in the population Chieftan/Barque//Manley/VB9104 using novel techniques. In Developing marker trait associations in the population Chieftan/Barque//Manley/VB9104 using novel techniques. Adelaide, South Australia.
- McMichael, G. L., Gecz, J., Haan, E., & et al. (2102). Cerebral Palsy: a new genetic era. In Symposium. Adelaide, South Australia: Heldref Publications.

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

 

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

Date Role Membership Country
2016 - ongoing - Australasian Genomic Technology Association -
2014 - ongoing - Human Genetics Society of Australasia -

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