Overview
Background
David is a Consultant Paediatrician, Metabolic Physician, Clinical Geneticist and clinician researcher. His area of expertise is the diagnosis and management of children with rare diseases. David is involved in multiple ongoing research projects aimed at novel disease discovery, improved diagnostic testing and treatments for children with inherited genetic disorders. He is director of a national clinic for Ataxia Telangiectasia brashat.org.au and has recently been awarded a $2.5 million NHMRC research grant for a phase 2/3 trial for treatment of this disorder.
Availability
- Dr Dave Coman is:
- Available for supervision
Fields of research
Qualifications
- Australian Health Practitioner Regulation Agency, Australian Health Practitioner Regulation Agency
- Australian Medical Association, Australian Medical Association
- Human Genetics Society of Australasia, Human Genetics Society of Australasia
- Royal Australasian College of Physicians, Royal Australasian College of Physicians
- Society for the Study of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism
Research impacts
David has close relationships with research colleagues both in Australia and internationally. He has multiple ongoing research projects investigating novel disease identification, the genetics of paediatric speech disorders and the development of new therapeutic possibilities for children and adults with rare diseases.
Works
Search Professor Dave Coman’s works on UQ eSpace
2013
Journal Article
Charting a seven-year trajectory of language outcomes for a child with galactosemia
Lewis, Fiona M., Coman, David J., Syrmis, Maryann, Kilcoyne, Sarah and Murdoch, Bruce E. (2013). Charting a seven-year trajectory of language outcomes for a child with galactosemia. Journal of Developmental and Behavioral Pediatrics, 34 (6), 414-418. doi: 10.1097/DBP.0b013e31829a7be1
2013
Journal Article
Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores
Rajanayagam, Jeremy, Coman, David, Cartwright, David and Lewindon, Peter J. (2013). Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores. Pediatric Transplantation, 17 (4), 362-368. doi: 10.1111/petr.12083
2013
Book Chapter
Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases
Lewis, Fiona M., Coman, David J., Syrmis, Maryanne, Kilcoyne, Sarah and Murdoch, Bruce E. (2013). Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases. JIMD reports: case and research reports. (pp. 45-52) edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava and Verena Peters. Dordrecht, Netherlands: Springer. doi: 10.1007/8904_2012_200
2013
Journal Article
Fumarase deficiency in dichorionic diamniotic twins
Tregoning, S., Salter, W., Thorburn, D.R., Durkie, M., Panayi, M., Wu, J.Y., Easterbrook, A. and Coman, D.J. (2013). Fumarase deficiency in dichorionic diamniotic twins. Twin Research and Human Genetics, 16 (6), 1117-1120. doi: 10.1017/thg.2013.72
2012
Journal Article
Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia
Lewis, Fiona M., Coman, David J., Syrmis, Maryanne, Kilcoyne, Sarah and Murdoch, Bruce E. (2012). Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia. Early Child Development and Care, 183 (12), 1747-1757. doi: 10.1080/03004430.2012.751101
2012
Journal Article
Extended newborn screening: An update for the general paediatrician
Coman, David and Bhattacharya, Kaustuv (2012). Extended newborn screening: An update for the general paediatrician. Journal of Paediatrics and Child Health, 48 (2), E68-E72. doi: 10.1111/j.1440-1754.2011.02199.x
2012
Journal Article
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
Coss, K.P., Byrne, J.C., Coman, D.J., Adamczyk, B., Abrahams, J.L., Saldova, R., Brown, A.Y., Walsh, O., Hendroff, U., Carolan, C., Rudd, P.M. and Treacy, E.P. (2012). IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Molecular Genetics and Metabolism, 105 (2), 1-9. doi: 10.1016/j.ymgme.2011.10.018
2012
Conference Publication
Early communicative skills in galactosaemia
Lewis, F. M., Coman, D. J., Kilcoyne, S., Syrmis, M. and Murdoch, B. E. (2012). Early communicative skills in galactosaemia. Developmental Neurorehabilitation Conference, Jasper, Canada, 15-16 December 2012.
2011
Conference Publication
The emergence and development of language in infants and children with a diagnosis of galactosaemia
Coman, David J., Lewis, Fiona M., Murdoch, Bruce E. and Syrmis, Maryann (2011). The emergence and development of language in infants and children with a diagnosis of galactosaemia. 3rd Annual Australasian Clinical Metabolic Meeting, Brisbane, QLD, Australia Australia, 18-19 March 2011.
2011
Conference Publication
Stability of language skills despite marked leukoencephalopathic changes in a child with Leber Hereditary Optic Neuropathy following CNS-directed leukaemia treatment
Lewis, Fiona M, Coman, David J and Murdoch, Bruce E (2011). Stability of language skills despite marked leukoencephalopathic changes in a child with Leber Hereditary Optic Neuropathy following CNS-directed leukaemia treatment. XX World Congress of Neurology, Marrakech, Morocco, 12-17 November 2011.
2011
Journal Article
Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians
Coman, David J., Hayes, Ian M, Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed and Delatycki, Martin B (2011). Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians. Journal of Inherited Metabolic Disease, 1, 9-15. doi: 10.1007/8904_2011_9
2010
Journal Article
Language skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemia
Lewis, Fiona M., Coman, David J. and Murdoch, Bruce E. (2010). Language skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemia. Pediatric Hematology and Oncology, 27 (8), 626-635. doi: 10.3109/08880018.2010.503340
2010
Journal Article
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study
McGill, J. J., Inwood, A. C., Coman, D. J., Lipke, M. L., de Lore, D, Swiedler, S. J. and Hopwood, J. J. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study. Clinical Genetics, 77 (5), 492-498. doi: 10.1111/j.1399-0004.2009.01324.x
2010
Journal Article
Galactosemia, a single gene disorder with epigenetic consequences
Coman, David J., Murray, David W., Byrne, Jennifer C., Rudd, Pauline M., Bagadlia, Paola M., Doran, Peter D. and Treacy, Eileen P. (2010). Galactosemia, a single gene disorder with epigenetic consequences. Pediatric Research, 67 (3), 286-292. doi: 10.1203/PDR.0b013e3181cbd542
2010
Journal Article
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)
Coman, David, Yaplito-Lee, Joy, La, Phung, Nasioulas, Steven, Bruno, Damien, Slater, Howard R., Stock-Myer, Sharyn E., Lynch, Elly L. and Gardner, R.J. McKinlay (2010). Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1). Molecular Genetics and Metabolism, 99 (3), 329. doi: 10.1016/j.ymgme.2009.11.006
2010
Journal Article
Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Shoubridge, Cheryl, Tan, May, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia, Kleefstra, Tjitske and Gécz, Jozef (2010). Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. PathoGenetics, 3 (1) 1. doi: 10.1186/1755-8417-3-1
2010
Journal Article
Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome
Coman, D., Gardner, R. J., Pertile, M. D. and Kannu, P. (2010). Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal diagnosis and therapy, 28 (2), 117-118. doi: 10.1159/000316404
2009
Journal Article
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation
Clements, S. E., Techanukul, T., Coman, D., Mellerio, J. E. and McGrath, J.A. (2009). Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation. British Journal of Dermatology, 162 (1), 201-207. doi: 10.1111/j.1365-2133.2009.09496.x
2009
Journal Article
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
Bruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D., Delatycki, M., Gardner, R. J. M., Hunter, M., James, P. A., Kannu, P., McGillivray, G., Pachter, N., Peters, H., Rieubland, C., Savarirayan, R., Scheffer, I. E., Sheffield, L., Tan, T., White, S. M., Yeung, A., Bowman, Z., Ngo, C., Choy, K. W., Cacheux, V., Wong, L., Amor, D. J. and Slater, H. R. (2009). Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of Medical Genetics, 46 (2), 123-131. doi: 10.1136/jmg.2008.062604
2009
Journal Article
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a
Malhotra, A., Pateman, A., Chalmers, R., Coman, D. and Menahem, S. (2009). Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagnosis and Therapy: clinical advances and basic research, 25 (1), 54-57. doi: 10.1159/000196816
Funding
Current funding
Past funding
Supervision
Availability
- Dr Dave Coman is:
- Available for supervision
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Media
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