Associate Professor Carol Wicking
|Associate Professor Carol Wicking|
Laboratory Head, Molecular Genetics and Development Division
P: +61 7 3346 2052
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 recently recognised cellular organelle 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.
My laboratory has been focused on analysis of mouse and cell-based models of human ciliopathies, with a particular focus on those characterised by skeletal abnormalities. The mouse models we work on have primarily arisen through random forward genetic screening approaches and have 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 palate.
More recently we have begun to search for additional genes involved in the skeletal ciliopathies using a gene discovery approach in human patient cohorts. This work involves collaboration with clinical geneticists and genomics researchers both nationally and internationally, and uses state-of-the art next generation sequencing approaches. This collaborative network enables us to cover the full gamut of ciliopathy research, from gene discovery in patient cohorts to functional studies in animal and cell-based models.
Through our network of clinical geneticists and genomic scientists, we will continue to discover new genes and mutations in ciliopathies, and use functional studies to uncover the mechanism of action at a whole organism and cellular level. Our research has the potential to influence diagnosis, screening and management of skeletal ciliopathies, and in the longer term may contribute to therapeutic approaches for ciliopathy associated abnormalities.
Student projects and opportunities
View current Wicking Lab honours projects.
View more publications by Associate Professor Wicking via PubMed.
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.
|Mr Diego Calvopina
Research higher degree student
+61 7 334 62341
+61 7 334 62345
|Ms Maria Rondon Galeano
+61 7 334 62341
+61 7 334 62345
Mr Claudio Cortes Rodriguez
|Associate Professor Carol Wicking
+61 7 334 62052