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Ms Gai McMichael
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Awards & Achievements
Award for the Best Scientific Paper presented at the 3rd International Cerebral Palsy Conference, Sydney, Austalia, 2009. Published abstract of award winning paper, invited speaker, keynote session Australasian Academy of Cerebral palsy and Developmental Medicine 5th Biennial Conference, New Zealand 2010
Most outstanding contribution to the discipline, School of Paediatrics and Reproductive Health, Discipline of Obstetrics and Gynaecology. Universtiy of Adelaide, Robinson Institute 2011
Master of Philosophy (Medical Science)
Cerebral palsy is the most common physical disability of childhood, accompanied by intellectual disability, seizures, speech and language deficits, visual or hearing impairments, behavioural problems and autism. The worldwide incidence ranges from 2-3/1,000 live births and has remained unchanged despite improvements in perinatal care. Contrary to traditional beliefs, few cases of cerebral palsy are due to problems at birth. We postulate that cerebral palsy is a heterogeneous group of developmental disorders of the brain with a sizeable contribution from genetic factors. If proven, it will dramatically change the understanding of cerebral palsy causation.
Cerebral palsy is of major importance to the affected individuals, their families and the public. The importance of identifying genetic causes for cerebral palsy cannot be overstated as it will affect recurrence risk estimates for the families and is crucial in defining specific individual genetic diagnosis. This project addresses an international issue of utmost importance to human health and will translate into fundamental outcomes in both the science, practice of clinical medicine and public health.
Investigate isolated cases of CP and individuals with a family history of CP for genomic mutations through whole exome-sequencing.
We take a fresh approach to the study of the causation of cerebral palsy, proposing that a considerable proportion of cerebral palsy cases can be explained by both inherited and spontaneous mutations in many different genes, each accounting for only a small proportion of all cerebral palsy, and that those mutations can be detected using next generation sequencing technologies. These technologies have recently led to the discovery of disease causing genetic mutations involved in intellectual disability, epilepsy and autism. Such studies have not been performed in cerebral palsy.
We will apply whole exome sequencing (the protein coding part of the genome that contains the genes) to families with isolated cases of cerebral palsy and families with more than one affected family member.
To identify genes predisposing to cerebral palsy, we will use whole exome sequencing to reveal mutations, and deletions and duplications. In families with more than one individual with CP we will sequence all affected individuals, one unaffected sibling and both parents. In isolated cases we will sequence the affected individual and both parents. Using this design and the fact that on average there are ~150 unique coding variants per human genome and on average one spontaneous mutation, we predict we will be able to quickly zoom in to the most likely cerebral palsy related genetic determinants. All relevant and prioritised variants will be confirmed by another method and tracked through the rest of their families. Identification of disease causing DNA variants will allow future functional studies to determine the precise role and importance of those genes to cerebral palsy.
This work will be conducted in collaboration with Dr Richard Gibbs, at Baylor College of Medicine - Human Genome Sequencing Center (BMC), Houston. Gai McMichael will spend two months at BCM working alongside Dr Gibbs and his team of molecular biologists and bioinformaticiians.
1. McMichael, G., MacLennan, A., Gibson, C., Alvino, E., Goldwater, P., Haan, E., Dekker, G. ‘Cytomegalovirus and Epstein-Barr virus may be associated with some cases of cerebral palsy’, The Journal of Maternal-Fetal & Neonatal Medicine, 2012; Early online
2. O’Callaghan, M., MacLennan, A., Gibson C., McMichael G., Haan, E., Broadbent J., Goldwater P., Painter J., Montgomery G., Dekker G. 2012, ‘Fetal and Maternal Candidate Single Nucleotide Polymo9rphism Associations with Cerebral Palsy’, Pediatrics, DOI:10.1542/peds.2011-0739.
3. McMichael, GL, Highet, AR, Gibson, CS, Goldwater, PN, O'Callaghan, ME, Alvino, ER & Maclennan, AH 2011, 'Comparison of DNA Extraction Methods from Small Samples of Newborn Screening Cards Suitable for Retrospective Perinatal Viral Research', J Biomol Tech, vol. 22, no. 1, Apr, pp. 5-9.
4. O'Callaghan, ME, Maclennan, AH, Gibson, CS, McMichael, GL, Haan, EA, Broadbent, J, Priest, K, Goldwater, PN & Dekker, GA 2011,’The Australian cerebral palsy research study - Protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy', J Paediatr Child Health, vol 47 (3), pp. 99 -110.
5. O'Callaghan, ME., MacLennan, A., Gibson C., McMichael, G., Haan, E., Broadbent J., Goldwater, P., Dekker, G. 2011, 'Epidemiolgic Associations With Cerebral Palsy', Obstetrics and Gynaecology, vol. 118, no. (3), pp. 576-582.
6. O'Callaghan, ME, MacLennan, A.H., Gibson C.S., McMichael, G.L., Haan, E. A., Broadbent J.L., Goldwater, P.N., Painter, J.N., Montgomery, G.W., Dekker, G.A. for the Australian Collaborative Cerebral Palsy Reseach Group. In Press, 'Fetal and Maternal candidate SNP associations with Cerebral Palsy: a case control study', Pediatrics.
7. McMichael, GL, Gibson, CS, O’Callaghan, ME, Goldwater, PN, Dekker, GA, Haan, EA, MacLennan, AH. 2009, ‘DNA from buccal swabs suitable for high-throughput SNP multiplex analysis’, Journal of Biomolecualar Techniques, vol 20 (5), pp. 232-235.
8. Djukic M, Gibson CS, MacLennan AH, Goldwater PN, Haan EA, McMichael GL, Priest K, Dekker GA, Hague WM, Chan A, Rudzki Z, Van Essen P, Khong TY,. Morton MR, Ranieri E, Scott H, Tapp H, Casey G. 2009, ‘Genetic susceptibility to viral exposure may increase the risk of cerebral palsy’, Australian and New Zealand Journal of Obstetrics and Gynaecology vol 49: 247-253.
9. McMichael, GL, Gibson, CS, Goldwater, PN, Haan, EA, Priest, K, Dekker, GA & MacLennan, AH 2008, 'Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population', Hum Genet, vol. 124, no. 4, Nov, pp. 411-416.
10. Hearnden PR, Eckermann PJ, McMichael GL, Hayden MJ, Eglington JK, Chalmers KJ. 2007 A genetic map of 1000 SSR and DArT markers in a wide barley cross.TAG Theoretical and Applied Genetics 115: 383-391.
11. Hayden MJ, Nguyen TM, Waterman A, McMichael GL, Chalmers KJ. 2007 ‘Application of multiplex-ready PCR for fluorescence-based SSR genotyping in barley and wheat’, Molecular Breeding 21: 271-281.
12. Read BJ, Raman H, McMichael GL, Chalmers KJ, Ablett GA, Platz GJ, Raman R, Genger RK, Boyd WJ, Li CD, Grime CR, Park RF, Wallwork H, Prangnell, Lance RC. 2003, ‘Mapping and QTL analysis of the barley population Sloop x Halcyon’, Australian Journal of Agricultural Research 54: 1145-1153.
1. McMichael, G., Moreno-De-Luca, A.H., MacLennan, A., Gecz J., Girirajan, S., Eichler, El, Martin, C. 2011, ‘Copy Number Variants in Cerebral Palsy.’ 12th International Congress Human Genetics, Montreal, Canada (poster presentation)
2. McMichael GL, Gibson CS, Goldwater PN, Haan EA, Priest K, O’Callaghan ME, MacLennan AH., 2010 ‘Genetic and environmental risk factors that contribute to cerebral palsy.’ Developmental Medicine and Child Neurology; 52 (Sup 2):6. (Published abstract of award winning paper keynote session Australasian Academy of Cerebral Palsy and Developmental Medicine 5th Biennial Conference, New Zealand).
3. McMichael GL, Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA, 2010 ‘Apolipoprotein E genotype is not associated with cerebral palsy.’ Developmental Medicine & Child Neurology 51:16 (Published abstract of the 3rd International Cerebral Palsy Conference, Sydney Australia, oral presentation) Winner of award for best Scientific Presentation.
4. O'Callaghan ME, MacLennan AH, Goldwater PN, Haan EA, McMichael GL, Paine B, Broadbent J, Dekker GA, Priest K, 2009, ‘Australian Collaborative Study of genomic and environmental factors associated with cerebral palsy.’ 3rd International Cerebral Palsy Conference, Sydney Australia, (poster presentation).
5. McMichael GL, Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA, 2008, ‘Stored Cord Serum: Is it an additional resource for research into fetal viral exposure?’ Journal of Paediatrics and Child Health; 44 (Sup 1): A101. (Published abstract of the Perinatal Society of Australia and New Zealand 12th Annual Congress, Gold Coast, Australia, poster presentation).
6. Djukic M, Gibson CS, McMichael GL, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA, 2008, ‘Is there a genomic basis to cerebral palsy?’ Seeking candidate genes. Journal of Paediatrics and Child Health; 44 (Sup 1): A53. (Published abstract of the Perinatal Society of Australia and New Zealand 12th Annual Congress, Gold Coast, Australia, oral presentation).
7. McMichael GL, Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA, 2008, Stored cord serum: is it an additional resource for research into fetal viral exposure? Australian Society for Medical Research Conference, SA Branch, Adelaide Australia (poster presentation).
8. Djukic M, Gibson CS, McMichael GL, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA, Is there a genomic basis to cerebral palsy? Seeking candidate genes. Australian Society for Medical Research Conference, SA Branch, Adelaide Australia, 2008 (oral presentation).
9. Hearnden PR, Eckerman PJ, Hayden MJ, McMichael GL, Eglinton JK, Chalmers KJ, 2005, A high-density genetic map for barley intregating SSR and DArT markers. Proceedings of the 12th Barley Technical Symposium Australia (poster presentation).
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