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)

1 - 20 of 118 works

2024

Journal Article

RNA variant assessment using transactivation and transdifferentiation

Nicolas-Martinez, Emmylou C., Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A., Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L., Scheffer, Ingrid E., Hildebrand, Michael S., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Azmanov, Dimitar N. ... Cooper, Sandra T. (2024). RNA variant assessment using transactivation and transdifferentiation. American Journal of Human Genetics, 111 (8), 1673-1699. doi: 10.1016/j.ajhg.2024.06.018

RNA variant assessment using transactivation and transdifferentiation

2024

Journal Article

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia

Demetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J. and Summers, Kim M. (2024). Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia. Molecular Genetics and Metabolism, 142 (4) 108516, 108516. doi: 10.1016/j.ymgme.2024.108516

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia

2024

Journal Article

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A. ... Whiffin, Nicola (2024). De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632 (8026), 832-840. doi: 10.1038/s41586-024-07773-7

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

2024

Journal Article

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population

Bernhardt, Isaac, Frajman, Leah E., Ryder, Bryony, Andersen, Erik, Wilson, Callum, McKeown, Colina, Anderson, Tim, Coman, David, Vincent, Andrea L., Buchanan, Christina, Roxburgh, Richard, Pitt, James, De Hora, Mark, Christodoulou, John, Thorburn, David R., Wilson, Francessa, Drake, Kylie M., Leask, Megan, Yardley, Anne-Marie, Merriman, Tony, Robertson, Stephen, Compton, Alison G. and Glamuzina, Emma (2024). Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population. Molecular Genetics and Metabolism, 142 (3) 108508, 108508. doi: 10.1016/j.ymgme.2024.108508

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population

2024

Journal Article

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark ... Callewaert, Bert (2024). Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. American Journal of Human Genetics, 111 (3), 509-528. doi: 10.1016/j.ajhg.2024.01.013

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

2024

Journal Article

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Panis, Bianca, Vos, E. Naomi, Barić, Ivo, Bosch, Annet M., Brouwers, Martijn C. G. J., Burlina, Alberto, Cassiman, David, Coman, David J., Couce, María L., Das, Anibh M., Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D. K., Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A., Scholl-Bürgi, Sabine, Schwartz, Ida V. D., Sdogou, Triantafyllia, Shakerdi, Loai A. ... Rubio-Gozalbo, M. Estela (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics, 15 1355962. doi: 10.3389/fgene.2024.1355962

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

2024

Journal Article

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease

Crameri, Jordan J., Palmer, Catherine S., Stait, Tegan, Jackson, Thomas D., Lynch, Matthew, Sinclair, Adriane, Frajman, Leah E., Compton, Alison G., Coman, David, Thorburn, David R., Frazier, Ann E. and Stojanovski, Diana (2024). Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease. Molecular and Cellular Biology, 44 (6), 1-19. doi: 10.1080/10985549.2024.2353652

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease

2023

Journal Article

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

Neves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M., Caputi, Caterina, Cirillo, Emilia, Coman, David J., Dückers, Gregor, Gilbert, Donald L., Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L., Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler‐Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P. and Dineen, Robert A. (2023). Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts. Cancer Medicine, 12 (13), 14663-14673. doi: 10.1002/cam4.6075

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

2023

Journal Article

Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015))

Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel ... Wortmannd, Saskia (2023). Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015)). Genetics in Medicine, 25 (6) 100828, 100828. doi: 10.1016/j.gim.2023.100828

Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015))

2023

Journal Article

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel ... Wortmann, Saskia (2023). Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine, 25 (6) 100314, 1-16. doi: 10.1016/j.gim.2022.09.015

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

2023

Journal Article

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

Vos, Niels, Reilly, Jack, Elting, Mariet W., Campeau, Philippe M., Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J., Kaur, Simran, StJohn, Miya, Morgan, Angela T., Kamien, Benjamin A., Patel, Chirag, Tedder, Matthew L., Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel ... Sadikovic, Bekim (2023). DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Epigenomics, 15 (6), 351-367. doi: 10.2217/epi-2023-0079

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

2023

Journal Article

Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Kaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie and Morgan, Angela T. (2023). Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 28 (4), 1-3. doi: 10.1038/s41380-022-01879-y

Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

2022

Journal Article

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

Hertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won-Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper and Bhattacharya, Kaustuv (2022). 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis. JIMD Reports, 63 (6), 568-574. doi: 10.1002/jmd2.12332

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

2022

Journal Article

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

Leeson, Hannah C., Goh, Denise, Coman, David and Wolvetang, Ernst J. (2022). Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations. Stem Cell Research, 64 102917, 1-5. doi: 10.1016/j.scr.2022.102917

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

2022

Journal Article

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Kaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie and Morgan, Angela T. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 28 (4), 1647-1663. doi: 10.1038/s41380-022-01764-8

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

2022

Journal Article

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report

Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David and McGill, Jim (2022). N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report. JIMD Reports, 63 (5), 420-424. doi: 10.1002/jmd2.12318

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report

2022

Journal Article

Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasia

Subramanian, Goutham Narayanan, Yeo, Abrey Jie, Gatei, Magtouf Hnaidi, Coman, David John and Lavin, Martin Francis (2022). Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasia. Antioxidants, 11 (4) 653, 653. doi: 10.3390/antiox11040653

Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasia

2022

Journal Article

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

Anderson, Erin, Aldridge, Melanie, Turner, Ross, Harraway, James, McManus, Sam, Stewart, Anna, Borzi, Peter, Trnka, Peter, Burke, John and Coman, David (2022). WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review. Pediatric Nephrology, 37 (10), 2369-2374. doi: 10.1007/s00467-022-05421-8

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

2021

Journal Article

PURA-related developmental and epileptic encephalopathy phenotypic and genotypic spectrum

Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese ... Rubboli, Guido (2021). PURA-related developmental and epileptic encephalopathy phenotypic and genotypic spectrum. Neurology: Genetics, 7 (6) e613, e613. doi: 10.1212/NXG.0000000000000613

PURA-related developmental and epileptic encephalopathy phenotypic and genotypic spectrum

2021

Journal Article

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Sue, Carolyn M., Balasubramaniam, Shanti, Bratkovic, Drago, Bonifant, Catherine, Christodoulou, John, Coman, David, Crawley, Karen, Edema‐Hildebrand, Fabienne, Ellaway, Carolyn, Ghaoui, Roula, Kava, Maina, Kearns, Lisa S., Lee, Joy, Liang, Christina, Mackey, David A., Murray, Sean, Needham, Merrilee, Rius, Rocio, Russell, Jacqui, Smith, Nicholas J.C., Thyagarajan, Dominic and Wools, Christine (2021). Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal Medicine Journal, 52 (1), 110-120. doi: 10.1111/imj.15505

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

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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