<b>Associate Professor Carol Wicking</b><br>
Group Leader, Genomics of Development and Disease Division<br>
Director, Centre for Rare Diseases Research<p>
P: +61 7 3346 2052<br>
E: c.wicking@imb.uq.edu.au<p>
- childhood genetic disease<br>
- ciliopathies<br>
- cleft lip<br>
- cleft palate<br>
- high-throughput genomics
Associate Professor Carol Wicking
Group Leader, Genomics of Development and Disease Division
Director, Centre for Rare Diseases Research

P: +61 7 3346 2052
E: c.wicking@imb.uq.edu.au

- childhood genetic disease
- ciliopathies
- cleft lip
- cleft palate
- high-throughput genomics

Developmental genes and human disease

Defects arising from abnormal embryonic development are a major cause of infant mortality and childhood disability. Ciliopathies form a class of genetic disease that arise in the developing embryo as a result of dysfunction of the primary cilium, a hair-like cellular projection with a pivotal role in developmental signalling. These diseases are characterised by a variable set of features, including extra fingers and toes (polydactyly); kidney disease; obesity; retinal degeneration; and skeletal, craniofacial, heart and brain anomalies.

As part of a national and international network of clinicians and researchers, my laboratory has been involved in the discovery and characterisation of novel ciliopathy genes through high-throughput sequencing of patient cohorts. Our role is primarily to validate and extend the mutation discoveries through functional characterisation in animal- and cell-based models. To date, we have described two novel genes causing Jeune and short-rib polydactyly syndromes, ciliopathies characterised by severe skeletal defects. This work demonstrates the value in a multidisciplinary approach, allowing us to cover the full gamut of ciliopathy research from gene discovery to functional studies.

Our second approach to ciliopathy gene discovery involves analysis of mice generated through random forward genetic screening approaches. This has provided insight into the function of the primary cilium and the underlying mechanism of disease. In addition, we have used engineered mouse models of the Hedgehog developmental signalling pathway to study the craniofacial defects associated with ciliopathies, providing insight into common defects such as cleft lip and cleft palate. 

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Research training opportunities 

Please see IMB's postgraduate website for more information.

Key publications

View more publications by Associate Professor Wicking via PubMed and via UQ Reseachers.

McInerney-Leo, A.M., Schmidts, M., Cortés, C.R., Leo, P.J. Gener, B., Courtney, A.D., Gardiner, B., Harris, J.A., Lu, Y., Marshall, M., UK10K Consortium, Scambler, P.J., Beales, P.P., Brown, M.A., Zankl, A., Mitchison, H.M., Duncan, E.L. and Wicking, C. (2013) Short rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American Journal of Human Genetics 93, 515-523.

Metzis, V., Courtney, A.D., Kerr, M.C., Ferguson, C., Rondon, M., Parton, R.G., Wainwright, B.J. and Wicking, C. (2013) Patched1 is required in neural crest cells for the prevention of orofacial clefts. Human Molecular Genetics 22, 5026-5035.

Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortés, C.R., McInerney-Leo, A., Emes, R., Arts, H., Tuysuz, B., D’Silva, J., Leo, P., Giles, T., Oud, M., Harris, J., Koopmans, M., Marshall, M., Elcioglu, N., Kuecher, A., Bockenhauer, D., Moore, A.T., Wilson, L., Janecke, A., Emmet, W., Gardiner, B., Streubel, B., Dopita, B., Zankl, A., Kayserili, H., Scambler, P.J., Brown, M.A, Beales, P., Wicking, C., UK10K, Duncan, E.L. and Mitchison, H.M. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics 93, 932-944.

Ashe, A., Butterfield, N.C., Town, L., Courtney, A.D., Cooper, A.N., Ferguson, C., Barry, R., Olsson, F., Liem K.F. Jr, Parton, R.G., Wainwright, B.J., Anderson, K.V., Whitelaw, E. and Wicking, C. (2012) Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum. Mol. Genet. 21, 1808-1823.

Liem, K.F. Jr., Ashe, A., He, M., Satir, P., Moran, J., Beier, D., Wicking, C. and Anderson, K.V. (2012) The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J. Cell Biol. 197, 789-800.

Group contacts

Mr Diego Calvopina
Research higher degree student
+61 7 334 62341
+61 7 334 62345
Mr Claudio Cortes Rodriguez
Research higher degree student
+61 7 334 62050
+61 7 334 62341
Ms Maria Rondon Galeano
Research staff
+61 7 334 62341
+61 7 334 62345
  Associate Professor Carol Wicking
Group leader
+61 7 334 62052



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