Associate Professor Carol Wicking

Principal Research Fellow

Institute for Molecular Bioscience

Affiliate Associate Professor

School of Biomedical Sciences
Faculty of Medicine
+61 7 334 62052


Carol Wicking is in the Division of Genomics of Development and Disease at the Institute for Molecular Bioscience, The University of Queensland, and is the Director of the IMB Centre for Rare Disease Research. Her research expertise spans a number of disciplines including human genetics, and cell and developmental biology. Her current research aims to understand the molecular and mechanistic basis of rare diseases, with a particular focus on a class of rare genetic disorders known as ciliopathies


Carol Wicking obtained her PhD from London University in 1991, for research on the molecular genetics of cystic fibrosis. She joined UQ as a postdoctoral fellow in 1992 under the supervision of Brandon Wainwright, and in this position was involved in the successful isolation of the gene for a cancer predisposition syndrome known as Gorlin’s syndrome. From 1998 she established her own independent research group at UQ, initially exploring the role of hedgehog signalling in organogenesis, particularly in patterning of the limb, craniofacial complex and skeleton. Her current research focus is on a class of rare congenital disorders known as ciliopathies. Her group has recently been involved in the identification and characterisation of a number of novel genes responsible for various ciliopathies.

Key Discoveries

  • Identification of Patched as the gene for Gorlin’s syndrome and for the sporadic form of the common skin cancer basal cell carcinoma (Published in Cell 1996)
  • The identification and characterisation of 3 novel genes for the skeletal ciliopathies Jeune and short rib polydactyly syndromes (Published in American Journal of Human Genetics x2, 2013; Nature Communications 2015)

Research Interests

  • Uncovering the molecular and mechanistic basis of rare genetic diseases
    As part of a collaborative network of clinicians, genomic scientists and cell and developmental biologists we use state-of-the-art Next Generation Sequencing to determine the genes responsible for a class of congenital diseases known as ciliopathies. Our role in this collaboration is primarily to characterise gene function using animal and cell-based models, taking advantage of recent advances in functional genomics. We employ both forward genetic screening approaches as well as targeted genome editing to develop disease models.

Research Impacts

Our research has direct application in the diagnosis, understanding and management of rare genetic diseases. Understanding the mechanism of disease gene function may ultimately aid in the development of new therapies for these and related disorders.


  • Master of Science, University of Melbourne
  • PhD, University of London
  • BSc(Hons), University of Melbourne


  • Lu, Hao, Galeano, Maria C. Rondon, Ott, Elisabeth, Kaeslin, Geraldine, Kausalya, P. Jaya, Kramer, Carina, Ortiz-Bruechle, Nadina, Hilger, Nadescha, Metzis, Vicki, Hiersche, Milan, Tay, Shang Yew, Tunningley, Robert, Vij, Shubha, Courtney, Andrew D., Whittle, Belinda, Wuehl, Elke, Vester, Udo, Hartleben, Bjoern, Neuber, Steffen, Frank, Valeska, Little, Melissa H., Epting, Daniel, Papathanasiou, Peter, Perkins, Andrew C., Wright, Graham D., Hunziker, Walter, Gee, Heon Yung, Otto, Edgar A., Zerres, Klaus, Hildebrandt, Friedhelm, Roy, Sudipto, Wicking, Carol and Bergmann, Carsten (2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nature Genetics, 49 7: 1025-1034. doi:10.1038/ng.3871

  • Mcinerney-Leo, Aideen M., Wheeler, Lawrie, Marshall, Mhairi S., Anderson, Lisa K., Zankl, Andreas, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2017) Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum. American Journal of Medical Genetics, 173 6: 1698-1704. doi:10.1002/ajmg.a.38215

  • De Angelis, Jessica E., Lagendijk, Anne K., Chen, Huijun, Tromp, Alisha, Bower, Neil I., Tunny, Kathryn A., Brooks, Andrew J., Bakkers, Jeroen, Francois, Mathias, Yap, Alpha S., Simons, Cas, Wicking, Carol, Hogan, Benjamin M. and Smith, Kelly A. (2017) Tmem2 regulates embryonic Vegf signaling by controlling hyaluronic acid turnover. Developmental Cell, 40 2: 123-136. doi:10.1016/j.devcel.2016.12.017

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Book Chapter

  • Gual-Soler, Marga, Taguchi, Tomohiko, Stow, Jennifer L. and Wicking, Carol (2012). Rab23. In Sangdun Choi (Ed.), Encyclopedia of signalling molecules (pp. 1532-1536) New York, United States: Springer. doi:10.1007/978-1-4419-0461-4

  • Wicking, C. A. and Evans, T. (2006). Hedgehog signalling. In Ganten, Detlev and Ruckpaul, Klaus (Ed.), Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine 3rd ed. (pp. 749-752) Berlin, Heidelberg, New York: Springer.

  • Evans, Timothy M., Simpson, Fiona, Parton, Robert G. and Wicking, Carol (2005). Characterization of Rab23, a negative regulator of sonic hedgehog signaling. In William E. Balch, Channing J. Der and Alan Hall (Ed.), GTPases regulating membrane targeting and fusion (pp. 759-777) Maryland Heights, MO, United States: Academic Press. doi:10.1016/S0076-6879(05)03066-1

Journal Article

Conference Publication

  • Metzis, Vicki, Courtney, Andrew, Ferguson, Charles, Cooper, Ashley, Wainwright, Brandon and Wicking, Carol (2011). Patched1 is essential for nasal pit invagination in mouse. In: Society for Developmental Biology 70th Annual Meeting Program. Society for Developmental Biology 70th Annual Meeting, Chicago IL, United States, (148-148). 21-25 July 2011. doi:10.1016/j.ydbio.2011.05.164

  • Turchi, L., Fareh, M., Aberdam, E., Kitajima, S., Simpson, F., Wicking, C., Aberdam, D. and Virolle, T. (2008). ATF3 and p15PAF are novel gatekeepers of genomic integrity upon UV stress. In: European Journal of Cancer Supplements. 20th Meeting of the European Association for Cancer Research, Lyon, France, (92-92). 5-8 July 2008. doi:10.1016/S1359-6349(08)71531-3

  • Town, L. J., Simpson, F., McGlinn, E. C., Butterfield, N., Richman, J. M. and Wicking, C. (2007). A novel RhoA inhibitor implicated in lip and palate formation. In: Develpmental Biology: First Pan American Congress in Developmental Biology. Society for Developmental Biology 66th Annual Meeting, Gran Meliá Hotel, Cancún, México, (447-447). 16th – 20th June, 2007. doi:10.1016/j.ydbio.2007.03.512

  • Town, L., McGlinn, E., Simpson, F., Richman, J. and Wicking, C. (2005). A novel Gli3-regulated gene implicated in lip and palate formation. In: Mechanisms of Development. , , (S60-S61). .

  • Butterfield, N. C., Simpson, F., Bennetts, J. S., Fowles, L. F. and Wicking, C. A. (2005). Analysis of the subcellular role of a gene isolated from the craniofacial region of the mouse. In: Mechanisms of Development. , , (S79-S80). .

  • Simpson, F., van Bueren, Lammerts K., Fowles, L., Berkman, J., Butterfield, N., Bowles, J., Adolphe, C., Simms, L., Young, J., Walsh, M. and Wicking, C. (2005). The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumour suppressor product p33ING1. In: Mechanisms of Development. , , (S137-S137). .

  • Bennetts, J., Fowles, L., Butterfield, N., van Bueren, Lammerts K., Berkman, J., Simpson, F. and Wicking, C. (2005). Identification and characterisation of novel genes with developmental significance. In: unknown, unknown, (S79-S79). unknown.

  • Nawshad, A., Joseph, B. K., Savage, N. W., Young, W., Wicking, C. A., Smyth, I. M. and Rothnagel, J. A. (1999). Patched and cytokeratin localization in odontogenic keratocysts. In: Mark C. Herzberg, bstracts of the Australian & New Zealand Division 38th Annual Scientific Meeting. Australian & New Zealand Division 38th Annual Scientific Meeting, Brisbane, Australia, (943-943). 27-29 September, 1998. doi:10.1177/00220345990780051301

Other Outputs

  • Evans, T. M. and Wicking, C. (2006) Rab23 in (eds.) UCSD-Nature Signaling Gateway. : Nature Publishing Group

Grants (Administered at UQ)

PhD and MPhil Supervision

Completed Supervision