![Dr Dave Coman](/sites/default/files/profiles/10649.png)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Funding
Current funding
Past funding
Supervision
Availability
- Dr Dave Coman is:
- Available for supervision
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