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

145 works between 2005 and 2026
All (145) Journal Article (127) Conference Publication (12) Book Chapter (6)

121 - 140 of 145 works

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

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)

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

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

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

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome

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

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

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

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

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

Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a

2008

Journal Article

Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome

Coman, D., Herbert, A. R., McGill, J., Lockwood, L. and Hallahan, A. R. (2008). Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome. Bone Marrow Transplantation, 42 (4), 293-294. doi: 10.1038/bmt.2008.163

Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome

2008

Journal Article

New indications and controversies in arginine therapy

Coman, David, Yaplito-Lee, Joy and Boneh, Avihu (2008). New indications and controversies in arginine therapy. Clinical Nutrition, 27 (4), 489-496. doi: 10.1016/j.clnu.2008.05.007

New indications and controversies in arginine therapy

2008

Journal Article

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

Coman, David, Bacic, Sonya, Boys, Amber, Sparrow, Duncan B., Dunwoodie, Sally L., Savarirayan, Ravi and Amor, David J. (2008). Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. American Journal of Medical Genetics, Part A, 146 (15), 1972-1976. doi: 10.1002/ajmg.a.32299

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

2008

Journal Article

The skeletal manifestations of the congenital disorders of glycosylation

Coman, D., Irving, M., Kannu, P., Jaeken, J. and Savarirayan, Ravi (2008). The skeletal manifestations of the congenital disorders of glycosylation. Clinical Genetics, 73 (6), 507-515. doi: 10.1111/j.1399-0004.2008.01015.x

The skeletal manifestations of the congenital disorders of glycosylation

2008

Journal Article

Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families

Coman, David J., Hayes, Ian M., Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed and Delatycki, Martin B. (2008). Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families. Journal of Pediatrics, 152 (5), 723-727. doi: 10.1016/j.jpeds.2007.10.015

Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families

2008

Journal Article

A novel splice site mutation in EYA4 causes DFNA10 hearing loss (American Journal of Medical Genetics 143,14, (1599-1604))

Hildebrand, Michael S., Coman, D., Yang, T., Gardner, R. J., Rose, E., Smith, R. J., Bahlo, M. and Dahl, H. H. (2008). A novel splice site mutation in EYA4 causes DFNA10 hearing loss (American Journal of Medical Genetics 143,14, (1599-1604)). American Journal of Medical Genetics, Part A, 146 (8), 1099-1099. doi: 10.1002/ajmg.a.32134

A novel splice site mutation in EYA4 causes DFNA10 hearing loss (American Journal of Medical Genetics 143,14, (1599-1604))

2008

Journal Article

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia [4]

Coman, D., Bostock, D., Hunter, M., Kannu, P., Irving, M., Mayne, V., Fietz, M., Jaeken, J. and Savarirayan, R. (2008). Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia [4]. American Journal of Medical Genetics, Part A, 146 (3), 389-392. doi: 10.1002/ajmg.a.32119

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia [4]

2008

Journal Article

Dysmorphism and the inborn errors of metabolism: The importance of the paediatrician

Coman, D., McGill, J. and Savarirayan, Ravi (2008). Dysmorphism and the inborn errors of metabolism: The importance of the paediatrician. Perinatology, 10 (1-2), 1-22.

Dysmorphism and the inborn errors of metabolism: The importance of the paediatrician

2008

Journal Article

Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons

Coman, David J. (2008). Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons. European Journal of Human Genetics, 16 (1), 2-4. doi: 10.1038/sj.ejhg.5201962

Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons

2007

Journal Article

Deletions revealing recessive genes: Deletions that reveal recessive genes

Coman, David J. and Gardner, R.J. McKinlay (2007). Deletions revealing recessive genes: Deletions that reveal recessive genes. European Journal of Human Genetics, 15 (11), 1103-1104. doi: 10.1038/sj.ejhg.5201919

Deletions revealing recessive genes: Deletions that reveal recessive genes

2007

Journal Article

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?

Coman, David J., White, Susan M. and Amor, David J. (2007). Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?. American Journal of Medical Genetics, Part A, 143 (18), 2085-2088. doi: 10.1002/ajmg.a.31894

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?

2007

Journal Article

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Hildebrand, Michael S., Coman, David, Yang, Tao, Gardner, R.J. McKinlay, Rose, Elizabeth, Smith, Richard J.H., Bahlo, Melanie and Dahl, Hans-Henrik M. (2007). A novel splice site mutation in EYA4 causes DFNA10 hearing loss. American Journal of Medical Genetics, Part A, 143 (14), 1599-1604. doi: 10.1002/ajmg.a.31860

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

2007

Journal Article

Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

Coman, D., McGill, J., MacDonald, R., Morris, D., Klingberg, S., Jaeken, J. and Appleton, D. (2007). Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype. Journal of Clinical Neuroscience, 14 (7), 668-672. doi: 10.1016/j.jocn.2006.04.008

Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

2006

Journal Article

Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old

Eather, G., Coman, D., Lander, C. and McGill, J. (2006). Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old. Journal of Clinical Neuroscience, 13 (6), 702-706. doi: 10.1016/j.jocn.2005.07.014

Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old

Current funding

  • 2026 - 2029
    Therapeutic development targeting newly identified mechanism of Ataxia Telangiectasia disease
    NHMRC IDEAS Grants
    Open grant
  • 2024 - 2027
    Metabolic Medicine Research Clinical Trial in Ataxia-Telangiectasia
    BrAshA-T Ataxia-Telangiectasia Research Funding
    Open grant
  • 2023 - 2028
    Introducing Mitochondrial Donation into Australia: The mitoHOPE (Healthy Outcomes Pilot and Evaluation) Program (MRFF EPCDRI grant led by Monash)
    Monash University
    Open grant
  • 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

Past funding

  • 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
  • 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
  • 2020 - 2025
    Ataxia-telangiectasia: treating mitochondrial dysfunction with a novel form of anaplerosis
    NHMRC MRFF - Rare Cancers, Rare Diseases and Unmet Need
    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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