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
2026
Journal Article
From genotype to outcome: Zygosity-specific insights in 63 cases of<i> CLPB</i>-related mitochondrial disease
Heath, Oliver, Del Cano-Ochoa, Francisco, Baris, Safa, Carrozzo, Rosalba, Coman, David, Distelmaier, Felix, Ellaway, Carolyn, Feichtinger, Rene G., Finocchi, Andrea, Guerrero-Castillo, Sergio, Halligan, Rebecca, Hannibal, Iris, Kritzer, Amy, Lichter-Konecki, Uta, Merkevicius, Kajus, Panis, Bianca, Pitceathly, Robert D. S., Pizzamiglio, Chiara, Iwanicka-Pronicka, Katarzyna, Rahman, Shamima, Seltzer, Laurie, Siepermann, Meinolf, Tal, Galit, Wevers, Ron A., Zietkiewicz, Szymon, Ramon-Maiques, Santiago, Mayr, Johannes A. and Wortmann, Saskia B. (2026). From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease. Molecular Genetics and Metabolism, 147 (4) 109752. doi: 10.1016/j.ymgme.2026.109752
2026
Journal Article
Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration
Lynch, Matthew, Manoy, Sophie, Murray, Claire, Wallace, Geoff, Pereira, Nolette, Price, Ricky, Inwood, Anita, McGill, Jim and Coman, David (2026). Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration. JIMD Reports, 67 (2) e70066, 2. doi: 10.1002/jmd2.70066
2026
Journal Article
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Manoy, Sophie, Minto, Tahlee, Demetriou, Kalliope, Lynch, Matthew, Selvanathan, Arthavan, Jardine, Luke, Lipke, Michelle, Bursle, Carolyn, Inwood, Anita, McGill, Jim and Coman, David (2026). Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency. JIMD Reports, 67 (2) e70076. doi: 10.1002/jmd2.70076
2026
Journal Article
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Masson, Aymeric, Paccaud, Julien, Orefice, Martina, Colin, Estelle, Mäkitie, Outi, Cormier-Daire, Valérie, Relator, Raissa, Ghosh, Sourav, Strub, Jean-Marc, Schaeffer-Reiss, Christine, Marcelis, Carlo, Koolen, David A., Pfundt, Rolph, de Boer, Elke, Vissers, Lisenka E.L.M., Gardeitchik, Thatjana, Aarts, Lonneke A.M., Rinne, Tuula, Terhal, Paulien A., Verbeek, Nienke E., Zuurbier, Linda C., Plomp, Astrid S., Wessels, Marja W., de Man, Stella A., Bouman, Arjan, Bird, Lynne M., Saadeh-Haddad, Reem, Guillen Sacoto, Maria J., Person, Richard ... Vitobello, Antonio (2026). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. Journal of Clinical Investigation, 136 (1) e182100. doi: 10.1172/JCI187998
2026
Journal Article
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model
Rawlins, Lettie E., Iffland, Philip H., Page, John, Flessner, Rebecca Z., Elziny, Soad M., Sbornova, Irina, Babus, Janice K., Bruckmeier, Sophie R., Parikh, Ria, Verhoeven, Merel, Fasham, James, Leslie, Joseph S., Caswell, Richard, Ubeyratna, Nishanka, Wenger, Olivia, Scott, Ethan M., Schreiber, John, Syrbe, Steffen, Klabunde-Cherwon, Annick, Owens, Martina, Crosby, Andrew H., Baple, Emma L., Crino, Peter B., Seeley, Andrea, Rocha, Heather, Rudnick, Sabine, Schaatz, Ulrich, Haack, Tobias, Schwaibold, Eva ... Syrbe, Steffen (2026). The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model. Annals of Neurology ana.78159. doi: 10.1002/ana.78159
2026
Journal Article
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Lee, Eunhye, Sim, Seungmin, Choi, Hee-Jung, Liang, Eugene Y., Le, Carolyn, Bina, Roya, Cohen, Ryan, George, Elizabeth, Kim, Soo Yeon, Bhat, Gifty, Falsey, Erin, Sidlow, Richard, Clinard, Kristin, Ben-Shachar, Shay, England, Eleina, Menendez, Beatriz, Herman, Isabella, Nielsen, Shelly, Punetha, Jaya, Bhola, Priya, Hamm, J. Austin, Keeney, Megan A., Sitzman, Nike, Berger, Sara, Mehta, Lakshmi, Conn, Alison J., Downie, Lilian, Ashfaq, Myla, Northrup, Hope ... Argilli, Emanuela (2026). SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum. Human Molecular Genetics, 35 (4) ddag003. doi: 10.1093/hmg/ddag003
2026
Journal Article
Childhood motor speech disorders: who to prioritise for genetic testing
Van Niel, Halianna, Lauretta, Mariana, Baker, Emma, O’Donnell, Lorraine, Boulton, Charlotte, Brenchley, Celia, Coman, David, Michellis, Evyenia, Goel, Himanshu, Thompson, Geoff, Webster, Richard, Paxton, Georgia, Stark, Zornitza, Scheffer, Ingrid E., Hildebrand, Michael S., Amor, David J. and Morgan, Angela T. (2026). Childhood motor speech disorders: who to prioritise for genetic testing. European Journal of Human Genetics PMID 9302235. doi: 10.1038/s41431-025-01993-9
2026
Journal Article
Holocarboxylase synthetase deficiency: a second case report with neonatal cholestatic liver disease
Manoy, Sophie, Murray, Claire, Lynch, Matthew, Minto, Tahlee, Choo, Kelvin, Bursle, Carolyn, Lipke, Michelle, McGill, Jim, Inwood, Anita and Coman, David (2026). Holocarboxylase synthetase deficiency: a second case report with neonatal cholestatic liver disease. Journal of Inherited Metabolic Disease Reports, 67 (1) e70051. doi: 10.1002/jmd2.70051
2025
Journal Article
Lets talk about ataxia-telangiectasia: meeting report of the AT clinical research conference June 2025
Coman, David, Jeggo, Penny and Lavin, Martin (2025). Lets talk about ataxia-telangiectasia: meeting report of the AT clinical research conference June 2025. DNA Repair, 155 103907, 1-7. doi: 10.1016/j.dnarep.2025.103907
2025
Conference Publication
The Australian Genomic Health Alliance (AGHA) Mitochondrial Flagship:delivering mitochondrial disease diagnoses nationally
Rius, Rocio, Compton, Alison, Baker, Naomi, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Bratkovic, Drago, Coman, David, Delatycki, Martin, Ellaway, Carolyn, Fahey, Michael, Fletcher, Janice, Frazier, Ann, Ghaoui, Roula, Goranitis, Ilias, Hock, Daniella, Kava, Maina, Lake, Nicole, Lamont, Phillipa, Lee, Joy, McGill, Jim, Panetta, Julie, Phillips, Liza, Ryan, Michael, Smith, Nicholas, Stroud, David, Tchan, Michel, Wallis, Mathew, Welch, AnneMarie, Wools, Christine ... Christodoulou, John (2025). The Australian Genomic Health Alliance (AGHA) Mitochondrial Flagship:delivering mitochondrial disease diagnoses nationally. 58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan Italy, May 24-27, 2025. LONDON: SPRINGERNATURE.
2025
Journal Article
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Masson, Aymeric, Paccaud, Julien, Orefice, Martina, Colin, Estelle, Mäkitie, Outi, Cormier-Daire, Valérie, Relator, Raissa, Ghosh, Sourav, Strub, Jean-Marc, Schaeffer-Reiss, Christine, Marcelis, Carlo, Koolen, David A., Pfundt, Rolph, de Boer, Elke, Vissers, Lisenka E.L.M., Gardeitchik, Thatjana, Aarts, Lonneke A.M., Rinne, Tuula, Terhal, Paulien A., Verbeek, Nienke E., Zuurbier, Linda C., Plomp, Astrid S., Wessels, Marja W., de Man, Stella A., Bouman, Arjan, Bird, Lynne M., Saadeh-Haddad, Reem, Guillen Sacoto, Maria J., Person, Richard ... Vitobello, Antonio (2025). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. Journal of Clinical Investigation, 135 (22) e182100, 1-18. doi: 10.1172/jci182100
2025
Journal Article
Massively parallel sequencing: Successes, limitations and the future for inborn errors of metabolism
Manoy, Sophie, McGrath, Pauline, Smith, Sally, Swan, Lauren, Spicer, Janette, Atthow, Catherine, Somerville, Jesse, Elliott, Aoife, O'Neill, Sara, Roberts, Rhiannon, Allen, Laura, Ebzery, Camron, Boon, Melanie, Bursle, Carolyn, Lipke, Michelle, Lynch, Matthew, Inwood, Anita and Coman, David (2025). Massively parallel sequencing: Successes, limitations and the future for inborn errors of metabolism. Journal of Paediatrics and Child Health, 61 (9), 1523-1528. doi: 10.1111/jpc.70164
2025
Conference Publication
Structural variants (SVs) underlying neurogenetic and neuromuscular diseases
Ravenscroft, G., Scriba, C., Folland, C., Bryen, S., Weisburd, B., Monahan, G., Rick, A., Rodrigues, M., Corbett, M., Gecz, J., Davis, M., Ashton, C., Coman, D., Yau, W., Roxburgh, R., Lamont, P. and Laing, N. (2025). Structural variants (SVs) underlying neurogenetic and neuromuscular diseases. 30th World Muscle Society Congress, Vienna, Austria, 7-11 October 2025. London, United Kingdom: Elsevier. doi: 10.1016/j.nmd.2025.105769
2025
Journal Article
Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis
Lynch, Matthew, Manoy, Sophie, Sly, Peter D., Wainwright, Claire E., Wolvetang, Ernst, Feenstra, John E., Dowling, Jason, Ware, Robert S., Patel, Maharshi S., Hermith-Ramirez, Diana, Vogel, Adam, Preece, Kahn, Zappala, Tania, Dai, Shuan, Webber, Ann, Yeo, Abrey, Subramanian, Goutham, Rao, Geetha, Ma, Cindy S., Jose, Sara, Gatei, Magtouf, Xin, Bowen, Sandona, Nicoletta, Lewindon, Peter, Sinclair, Katherine G., Nayler, Sam, Lavin, Martin F. and Coman, David J. (2025). Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis. eBioMedicine, 118 105840, 1-17. doi: 10.1016/j.ebiom.2025.105840
2025
Journal Article
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Hock, Daniella H., Caruana, Nikeisha J., Semcesen, Liana N., Lake, Nicole J., Formosa, Luke E., Amarasekera, Sumudu S. C., Stait, Tegan, Tregoning, Simone, Frajman, Leah E., Bournazos, Adam M., Robinson, David R. L., Ball, Megan, Reljic, Boris, Ryder, Bryony, Wallis, Mathew J., Vasudevan, Anand, Beck, Cara, Peters, Heidi, Lee, Joy, Tan, Natalie B., Freckmann, Mary-Louise, Harris, Madeleine, Martin, Ellenore M., McGrath, Pauline, Atthow, Catherine, Elbaum, Yoni, MacArthur, Daniel G., Balasubramaniam, Shanti, Siira, Stefan J. ... Stroud, David A. (2025). Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Genome Medicine, 17 (1) 58. doi: 10.1186/s13073-025-01467-z
2025
Journal Article
Biomarkers in Ataxia-Telangiectasia: a systematic review
Tiet, M. Y., Guțu, B.-I., Springall-Jeggo, P., Coman, D., Willemsen, M., Van Os, N., Doria, M., Donath, H., Schubert, R., Dineen, R. A., Biagiotti, S., Prayle, A. P., Group, A. T. Biomarker Working, Hensiek, A. E. and Horvath, R. (2025). Biomarkers in Ataxia-Telangiectasia: a systematic review. Journal of Neurology, 272 (2) 110, 110-2. doi: 10.1007/s00415-024-12766-7
2025
Journal Article
The Australian Genomics Mitochondrial Flagship: a national program delivering mitochondrial diagnoses
Rius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula ... Thorburn, David R. (2025). The Australian Genomics Mitochondrial Flagship: a national program delivering mitochondrial diagnoses. Genetics in Medicine, 27 (1) 101271, 1-12. doi: 10.1016/j.gim.2024.101271
2025
Journal Article
The Type of Follicle-Stimulating Hormone Medication Given for In Vitro Fertilization Impacts Oocyte Retrieval: A Systematic Review and Meta-Analysis
Michael, Toni J.F., Kirubakaran, Ranita, Parab, Tanay, Wang, Rui, Grosser, Mark, Vollenhoven, Beverley J., Smith, Vinayak, Stocker, Sophie L., Vollenhoven, Beverley, Agresta, Franca, Bi, Mian, Birru, Emanuel, Coman, David, Devereaux, Nicholas, Gardner, David, Grosser, Mark, Hatamosa, Grant, Horta, Fabrizzio, Lin, Hua, Listijono, David, Sacks, Gavin, Smith, Vinayak, Stern, Kate, Stocker, Sophie, Tipper, Steven, Venter, Deon and Wang, Rui (2025). The Type of Follicle-Stimulating Hormone Medication Given for In Vitro Fertilization Impacts Oocyte Retrieval: A Systematic Review and Meta-Analysis. Clinical Pharmacology and Therapeutics, 118 (4) cpt.70014, 790-802. doi: 10.1002/cpt.70014
2024
Journal Article
Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgery
Mattke, Adrian C., Johnson, Kerry E., Ariyawansa, Krishanti, Trnka, Peter, Venugopal, Prem S., Coman, David, Schibler, Andreas and Gibbons, Kristen (2024). Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgery. Anaesthesia and Intensive Care, 52 (6) 310057X241265119, 1-10. doi: 10.1177/0310057X241265119
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
Funding
Current funding
Past funding
Supervision
Availability
- Dr Dave Coman is:
- Available for supervision
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