Dr Dave Coman
Dr

Dave Coman

Email: 

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

Biological Sciences Biomedical and Clinical Sciences Clinical sciences Developmental genetics (incl. sex determination) Gene expression (incl. microarray and other genome-wide approaches) Genetics Genomics Medical biochemistry - amino acids and metabolites Medical biochemistry and metabolomics Medical genetics (excl. cancer genetics) Metabolic medicine Paediatrics

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.

Search Professor Dave Coman’s works on UQ eSpace

118 works between 2005 and 2024
All (118) Journal Article (104) Book Chapter (6) Conference Publication (8)

41 - 60 of 118 works

2019

Journal Article

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

Francisco, Rita, Pascoal, Carlota, Marques-da-Silva, Dorinda, Morava, Eva, Gole, Glen A., Coman, David, Jaeken, Jaak and Dos Reis Ferreira, Vanessa (2019). Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. Journal of Inherited Metabolic Disease, 42 (1), 29-48. doi: 10.1002/jimd.12025

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

2019

Journal Article

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up

Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena-Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R., Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández-Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna ... Morava, Eva (2019). International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up. Journal of Inherited Metabolic Disease, 42 (1), 5-28. doi: 10.1002/jimd.12024

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up

2018

Journal Article

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

Swan, L., Gole, G., Sabesan, V., Cardinal, J. and Coman, D. (2018). Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Case Reports in Genetics, 2018, 1-4. doi: 10.1155/2018/2508345

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

2018

Journal Article

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

Trivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia M. B., Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R., Cotterill, Andrew M., Lodish, Maya B. and Stratakis, Constantine A. (2018). Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. Journal of the Endocrine Society, 2 (10), 1100-1108. doi: 10.1210/js.2018-00156

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

2018

Journal Article

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

Swan, Lauren, Cardinal, John and Coman, David (2018). SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. Clinics and Practice, 8 (3), 91-93. doi: 10.4081/cp.2018.1071

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

2018

Journal Article

Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis

Coman, David, Vissers, Lisenka E. L. M., Riley, Lisa G., Kwint, Michael P., Hauck, Roxanna, Koster, Janet, Geuer, Sinje, Hopkins, Sarah, Hallinan, Barbra, Sweetman, Larry, Engelke, Udo F. H., Burrow, T Andrew, Cardinal, John, McGill, James, Inwood, Anita, Gurnsey, Christine, Waterham, Hans R., Christodoulou, John, Wevers, Ron A. and Pitt, James (2018). Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis. American Journal of Human Genetics, 103 (1), 125-130. doi: 10.1016/j.ajhg.2018.05.004

Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis

2018

Journal Article

Ocular manifestations of a novel proximal 19p13.3 microdeletion

Swan, L. and Coman, D. (2018). Ocular manifestations of a novel proximal 19p13.3 microdeletion. Case Reports in Genetics, 2018, 2492437-5. doi: 10.1155/2018/2492437

Ocular manifestations of a novel proximal 19p13.3 microdeletion

2018

Journal Article

Tread carefully: a functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing

Nafisinia, Michael, Menezes, Minal Juliet, Gold, Wendy Anne, Riley, Lisa, Hatch, Joshua, Cardinal, John, Coman, David and Christodoulou, John (2018). Tread carefully: a functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing. Molecular Genetics and Metabolism, 123 (3), 382-387. doi: 10.1016/j.ymgme.2018.01.007

Tread carefully: a functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing

2018

Journal Article

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

Watson, Lauren, Cartwright, David, Jardine, Luke A, Pincus, David, Koorts, Pieter, Kury, Sebastien, Bezieau, Stephanie, George, Shane, Moloney, Susan, Holt, Johanna and Coman, David (2018). Transient neonatal zinc deficiency in exclusively breastfed preterm infants. Journal of Paediatrics and Child Health, 54 (3), 319-322. doi: 10.1111/jpc.13780

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

2018

Journal Article

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

Francisco, R., Pascoal, C., Marques-da-Silva, D., Morava, E., Gole, G. A., Coman, D., Jaeken, J. and Dos Reis Ferreira, Vanessa (2018). Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. Journal of Inherited Metabolic Disease, 1-16. doi: 10.1007/s10545-017-0119-2

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

2017

Journal Article

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis

Bursle, C., Riney, K., Stringer, J., Moore, D., Gole, G., Kearns, L. S., Mackey, D. A. and Coman, D. (2017). Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. JIMD Reports, 42, 53-60. doi: 10.1007/8904_2017_79

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis

2017

Journal Article

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi and Salomons, Gajja S. (2017). An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. Journal of Inherited Metabolic Disease, 41 (2), 169-180. doi: 10.1007/s10545-017-0106-7

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

2017

Journal Article

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

Bursle, C, Weintraub, R, Ward, C, Justo, R, Cardinal, J and Coman, D (2017). Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. JIMD reports, 40, 91-95. doi: 10.1007/8904_2017_68

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

2017

Journal Article

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

Coman, David, Fullston, Tom, Shoubridge, Cheryl, Leventer, Richard, Wong, Flora, Nazaretian, Simon, Simpson, Ian, Gecz, Josef and McGillivray, George (2017). X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. Child Neurology Open, 4, 1-6. doi: 10.1177/2329048X17738625

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

2017

Journal Article

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS

Waak, Michaela, Mohammad, Shekeeb S., Coman, David, Sinclair, Kate, Copeland, Lisa, Silburn, Peter, Coyne, Terry, McGill, Jim, O'Regan, Mary, Selway, Richard, Symonds, Joseph, Grattan-Smith, Padraic, Lin, Jean-Pierre, Dale, Russell C. and Malone, Stephen (2017). GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, 89 (2), 220-+. doi: 10.1136/jnnp-2017-315653

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS

2017

Journal Article

Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions

Guitart, Amelie V., Panagopoulou, Theano I., Villacreces, Arnaud, Vukovic, Milica, Sepulveda, Catarina, Allen, Lewis, Carter, Roderick N., van de Lagemaat, Louie N., Morgan, Marcos, Giles, Peter, Sas, Zuzanna, Gonzalez, Marta Vila, Lawson, Hannah, Paris, Jasmin, Edwards-Hicks, Joy, Schaak, Katrin, Subramani, Chithra, Gezer, Deniz, Armesilla-Diaz, Alejandro, Wills, Jimi, Easterbrook, Aaron, Coman, David, So, Chi Wai Eric, O'Carroll, Donal, Vernimmen, Douglas, Rodrigues, Neil P., Pollard, Patrick J., Morton, Nicholas M., Finch, Andrew and Kranc, Kamil R. (2017). Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions. The Journal of Experimental Medicine, 214 (3), 719-735. doi: 10.1084/jem.20161087

Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions

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

DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansion

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

COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritis

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

Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review

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

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Current funding

  • 2023 - 2028
    Translational Centre for Speech Disorders (NHMRC Centre of Research Excellence administered by Murdoch Children's Research Institute)
    Murdoch Childrens Research Institute
    Open grant
  • 2021 - 2024
    Repairing catalase function in A-T patients using a CAT-SKL therapeutic
    National Stem Cell Foundation of Australia Matched Funding Program
    Open grant
  • 2021 - 2025
    Mitochondrial Diagnostic Network for Genomics and Omics - Not being led through UQ.
    Murdoch Childrens Research Institute
    Open grant
  • 2020 - 2025
    Ataxia-telangiectasia: treating mitochondrial dysfunction with a novel form of anaplerosis
    NHMRC MRFF - Rare Cancers, Rare Diseases and Unmet Need
    Open grant

Past funding

  • 2020 - 2023
    A Phase 2A/2B placebo-controlled randomised clinical trial to test the ability of triheptanoin to protect primary airway epithelial cells obtained from patients with ataxia-telangiectasia against....
    BrAshA-T Ataxia-Telangiectasia Research Funding
    Open grant
  • 2020 - 2022
    Ataxia-telangiectasia: treating mitochondrial dysfunction with a novel form of anaplerosis
    Wesley Medical Research Ltd
    Open grant
  • 2011 - 2013
    Early prediction of intellectual and cognitive-linguistic outcomes in children with treated galactosaemia
    APEX Foundation for Research into Intellectual Disability Ltd (AFRID)
    Open grant

Availability

Dr Dave Coman is:
Available for supervision

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Enquiries

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