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
2017
Book Chapter
DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansion
Bursle, Carolyn, Brown, Dominique, Cardinal, John, Connor, Frances, Calvert, Sophie and Coman, David (2017). DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansion. JIMD Reports. (pp. 27-32) Berlin, Germany: Springer. doi: 10.1007/8904_2016_7
2017
Book Chapter
COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritis
Bursle, Carolyn, Narendra, Anna, Chuk, Raymond, Cardinal, John, Justo, Rob, Lewis, Bruce and Coman, David (2017). COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritis. JIMD Reports. (pp. 105-109) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. Berlin, Heidelberg: Springer. doi: 10.1007/8904_2016_13
2016
Journal Article
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review
Gole, Hobia, Chuk, Raymond and Coman, David (2016). Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clinics and Practice, 6 (3) 848, 1-3. doi: 10.4081/cp.2016.848
2016
Journal Article
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Myers, Candace T., McMahon, Jacinta M., Schneider, Amy L., Petrovski, Slavé, Allen, Andrew S., Carvill, Gemma L., Zemel, Matthew, Saykally, Julia E., LaCroix, Amy J., Heinzen, Erin L., Hollingsworth, Georgina, Nikanorova, Marina, Corbett, Mark, Gecz, Jozef, Coman, David, Freeman, Jeremy, Calvert, Sophie, Gill, Deepak, Carney, Patrick, Lerman-Sagie, Tally, Sampaio, Hugo, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Johnson, Michael R., Kuzniecky, Ruben ... Epi4K Consortium (2016). De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. American Journal of Human Genetics, 99 (2), 287-298. doi: 10.1016/j.ajhg.2016.06.003
2016
Journal Article
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine ... Crow, Yanick J. (2016). Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. Journal of Clinical Immunology, 36 (5), 529-530. doi: 10.1007/s10875-016-0287-0
2016
Journal Article
Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine ... Crow, Yanick J. (2016). Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey. Journal of Clinical Immunology, 36 (3), 220-234. doi: 10.1007/s10875-016-0252-y
2016
Journal Article
Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations
Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary ... Yang, Yaping (2016). Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations. American Journal of Human Genetics, 98 (2), 347-357. doi: 10.1016/j.ajhg.2015.12.008
2016
Journal Article
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome
Ramineni, Anand and Coman, David (2016). De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. Child Neurology Open, 3, 1-6. doi: 10.1177/2329048x16666362
2016
Journal Article
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
Coman, D., Lewindon, P., Clayton, P. and Riney, K. (2016). PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?. JIMD Reports, 25, 71-75. doi: 10.1007/8904_2015_456
2016
Journal Article
Pediatric Hereditary Neuralgic Amyotrophy : Successful Treatment With Intravenous Immunoglobulin and Insights Into SEPT9 Pathogenesis
Chuk, Raymond, Sheppard, Megan, Wallace, Geoff and Coman, David (2016). Pediatric Hereditary Neuralgic Amyotrophy : Successful Treatment With Intravenous Immunoglobulin and Insights Into SEPT9 Pathogenesis. Child Neurology Open, 3 2329048X1666897, 1-3. doi: 10.1177/2329048x16668970
2016
Book Chapter
Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review
Hatch, J., Coman, D., Clayton, P., Mills, P., Calvert, S., Webster, R. I. and Riney, K. (2016). Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review. JIMD Reports. (pp. 91-97) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. Berlin, Germany: Springer. doi: 10.1007/8904_2015_482
2015
Journal Article
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss
Gagliardi, Lucia, Nataren, Nathalie, Feng, Jinghua, Schreiber, Andreas W., Hahn, Christopher N., Conwell, Louise S., Coman, David and Scott, Hamish S. (2015). Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. American Journal of Medical Genetics, Part A, 167 (8), 1872-1876. doi: 10.1002/ajmg.a.37075
2015
Journal Article
Septic arthritis of the temporomandibular joint in an infant
Chuk, Raymond, Arvier, John, Laing, Barbara and Coman, David (2015). Septic arthritis of the temporomandibular joint in an infant. Clinics and Practice, 5 (2) 736, 53-55. doi: 10.4081/cp.2015.736
2015
Conference Publication
Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy
Sharwood, E. F., McGill, M., Koorts, P. J., Coman, D. and Conwell, L. S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. Children's Health Queensland Research Conference, Brisbane, Queensland, Australia, December 2015.
2015
Book Chapter
Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?
Grover, Z., Lewindon, P., Clousten, A., Shaag, A., Elpeleg, O. and Coman, D. (2015). Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?. JIMD Reports, Volume 21. (pp. 109-113) edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman and Verena Peters. Berlin, Germany: Springer Berlin Heidelberg. doi: 10.1007/8904_2014_402
2015
Conference Publication
Information processing in a child with Galactosaemia: an examination using behavioural and neuropysiological measures
Lewis, Fiona M., Knueppfer, Christina and Coman, David J. (2015). Information processing in a child with Galactosaemia: an examination using behavioural and neuropysiological measures. Federation of European Societies of Neuropsychology, Tampere, Finland, 9-11 September 2015. doi: 10.13140/RG.2.1.3218.9923
2015
Conference Publication
Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy
Sharwood, Erin F., McGill, Michael, Koorts, P. J., Coman, David and Conwell, Louise S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia, October 2015.
2014
Journal Article
Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature
Mohammad, Shekeeb S., Coman, David and Calvert, Sophie (2014). Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature. Journal of Paediatrics and Child Health, 50 (12), 1025-1026. doi: 10.1111/jpc.12613
2014
Journal Article
Pre-linguistic communication skill development in an infant with a diagnosis of galactosemia
Lewis, Fiona M., Coman, David J., Kilcoyne, Sarah, Murdoch, Bruce E. and Syrmis, Maryanne (2014). Pre-linguistic communication skill development in an infant with a diagnosis of galactosemia. Developmental Neurorehabilitation, 17 (5), 291-297. doi: 10.3109/17518423.2012.753479
2014
Journal Article
Early markers of vulnerable language skill development in galactosaemia
Lewis, Fiona M., Coman, David J. and Syrnis, Maryanne (2014). Early markers of vulnerable language skill development in galactosaemia. Early Child Development and Care, 184 (12), 1787-1799. doi: 10.1080/03004430.2013.878712
Funding
Current funding
Past funding
Supervision
Availability
- Dr Dave Coman is:
- Available for supervision
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Media
Enquiries
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