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
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
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
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
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
2021
Journal Article
An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T)
Yeo, A.J., Subramanian, G.N., Chong, K.L., Gatei, M., Parton, R.G., Coman, D. and Lavin, M.F. (2021). An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T). Molecular Metabolism, 54 101354, 101354. doi: 10.1016/j.molmet.2021.101354
2021
Journal Article
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant
Poole, Rebecca L., Curry, Philippa D. K., Marcinkute, Ruta, Brewer, Carole, Coman, David, Hobson, Emma, Johnson, Diana, Lynch, Sally Ann, Saggar, Anand, Searle, Claire, Scurr, Ingrid, Turnpenny, Peter D., Vasudevan, Pradeep and Tatton-Brown, Katrina (2021). Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. American Journal of Medical Genetics, Part A, 185 (8), 2445-2454. doi: 10.1002/ajmg.a.62350
2021
Journal Article
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: management challenges and potential therapeutic approaches
Ryder, Bryony, Inbar-Feigenberg, Michal, Glamuzina, Emma, Halligan, Rebecca, Vara, Roshni, Elliot, Aoife, Coman, David, Minto, Tahlee, Lewis, Katherine, Schiff, Manuel, Vijay, Suresh, Akroyd, Rhonda, Thompson, Sue, MacDonald, Anita, Woodward, Abigail J. M., Gribben, Joanne. E. L., Grunewald, Stephanie, Belaramani, Kiran, Hall, Madeleine, van der Haak, Natalie, Devanapalli, Beena, Tolun, Adviye Ayper, Wilson, Callum and Bhattacharya, Kaustuv (2021). New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: management challenges and potential therapeutic approaches. Journal of Inherited Metabolic Disease, 44 (4), 903-915. doi: 10.1002/jimd.12371
2021
Journal Article
Application of genome sequencing from blood to diagnose mitochondrial diseases
Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, Annemarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R. and Christodoulou, John (2021). Application of genome sequencing from blood to diagnose mitochondrial diseases. Genes, 12 (4) 607, 1-13. doi: 10.3390/genes12040607
2021
Journal Article
Triple P for parents of children with phenylketonuria: a nonrandomized trial
Mitchell, Amy E., Morawska, Alina, Kirby, Grace, McGill, James, Coman, David and Inwood, Anita (2021). Triple P for parents of children with phenylketonuria: a nonrandomized trial. Journal of Pediatric Psychology, 46 (2), 208-218. doi: 10.1093/jpepsy/jsaa100
2021
Journal Article
Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia
Yeo, Abrey J., Kok, Chong L., Gatei, Magtouf, Zou, Dongxiu, Stewart, Romal, Withey, Sarah, Wolvetang, Ernst, Parton, Robert G., Brown, Adam D., Kastan, Michael B., Coman, David and Lavin, Martin F. (2021). Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia. iScience, 24 (1) 101972, 101972. doi: 10.1016/j.isci.2020.101972
2021
Journal Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management
Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-da-Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut-Cegielska, Jolanta ... Morava, Eva (2021). International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management. Journal of Inherited Metabolic Disease, 44 (1), 148-163. doi: 10.1002/jimd.12286
2020
Conference Publication
The Australian Genomic Health Alliance Mitochondrial Flagship - A national approach to genomic diagnostics
Thorburn, D., Baker, N., Balasubramaniam, S., Bratkovic, D., Coman, D., Compton, A., Delatycki, M., Ellaway, C., Fahey, M., Fletcher, J., Frazier, A., Ghaoui, R., Goel, H., Hock, D., Kava, M., Lake, N., Lamont, P., Lee, J., Panetta, J., Phillips, L., Rius, R., Ryan, M., Smith, N., Stroud, D., Tchan, M., Walsh, M., Wallis, M., Welch, A., Wools, C. and Christodoulou, J. (2020). The Australian Genomic Health Alliance Mitochondrial Flagship - A national approach to genomic diagnostics. 53rd European Society of Human Genetics (ESHG) Conference, Virtual, 6–9 June 2020. London, United Kingdom: Nature Publishing Group.
2020
Journal Article
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
Kaur, Simranpreet, Van Bergen, Nicole J., Ben-Zeev, Bruria, Leonardi, Emanuela, Tan, Tiong Y., Coman, David, Kamien, Benjamin, White, Susan M., St John, Miya, Phelan, Dean, Rigbye, Kristin, Lim, Sze Chern, Torres, Michelle C., Marty, Melanie, Savva, Elena, Zhao, Teresa, Massey, Sean, Murgia, Alessandra, Gold, Wendy A. and Christodoulou, John (2020). Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). Journal of Genetics and Genomics, 47 (10), 650-654. doi: 10.1016/j.jgg.2020.09.003
2020
Journal Article
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
Domingo, Deepti, Nawaz, Urwah, Corbett, Mark, Espinoza, Josh L., Tatton-Brown, Katrina, Coman, David, Wilkinson, Miles F., Gecz, Jozef and Jolly, Lachlan A. (2020). A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. Human Molecular Genetics, 29 (15), 2568-2578. doi: 10.1093/hmg/ddaa151
2020
Journal Article
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Van Reyk, Olivia, Coleman, Matthew, Braden, Ruth O., Turner, Samantha, Rigbye, Kristin A., Boys, Amber, Barton, Sarah, Webster, Richard, Fahey, Michael, Saunders, Kerryn, Parry-Fielder, Bronwyn, Paxton, Georgia, Hayman, Michael, Coman, David, Goel, Himanshu, Baxter, Anne, Ma, Alan, Davis, Noni, Reilly, Sheena, Delatycki, Martin, Liégeois, Frederique J., Connelly, Alan, Gecz, Jozef, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E. ... Morgan, Angela T. (2020). Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology, 94 (20), e2148-e2167. doi: 10.1212/WNL.0000000000009441
2020
Journal Article
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Riley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Minoche, Andre E., Puttick, Clare, Thorburn, David R., Rius, Rocio, Compton, Alison G., Menezes, Minal J., Bhattacharya, Kaustuv, Coman, David, Ellaway, Carolyn, Alexander, Ian E., Adams, Louisa, Kava, Maina, Robinson, Jacqui, Sue, Carolyn M., Balasubramaniam, Shanti and Christodoulou, John (2020). The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in Medicine, 22 (7), 1254-1261. doi: 10.1038/s41436-020-0793-6
2020
Conference Publication
Quality of life of parents of children with phenylketonuria (PKU): Relationships with child behaviour and parenting indicators
Etel, E., Morawska, A., Mitchell, A., Kirby, G., Inwood, A. and Coman, D. (2020). Quality of life of parents of children with phenylketonuria (PKU): Relationships with child behaviour and parenting indicators. Helping Families Change Conference, Brisbane, QLD Australia, 5 -7 February 2020.
2020
Journal Article
Behçet disease-like symptoms with a novel COPA mutation
Anderson, E., Hatch, J., Cardinal, J., Langguth, D. and Coman, D. (2020). Behçet disease-like symptoms with a novel COPA mutation. Case Reports in Genetics, 2020, 1-4. doi: 10.1155/2020/8414857
2020
Journal Article
Hypoglycemia in CDG patients due to PMM2 mutations: follow up on hyperinsulinemic patients
Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, Mercimek-Andrews, Saadet, Witters, Peter and Morava, Eva (2020). Hypoglycemia in CDG patients due to PMM2 mutations: follow up on hyperinsulinemic patients. JIMD Reports, 51 (1), 76-81. doi: 10.1002/jmd2.12085
2019
Journal Article
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M., Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A., Sachdev, Rani, McGillivray, George, Leventer, Richard J., Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito ... Matsumoto, Naomichi (2019). Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients. Journal of Human Genetics, 64 (12), 1173-1186. doi: 10.1038/s10038-019-0667-4
Funding
Current funding
Past funding
Supervision
Availability
- Dr Dave Coman is:
- Available for supervision
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Media
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