<b>Dr Kelly Smith</b><br>
Group Leader, Genomics of Development and Disease Division<br>
Investigator, Centre for Rare Diseases Research<br>
Investigator, Breakthrough Science Program in Mechanobiology<p>
P: +61 7 3346 2053<br>
E: k.smith@imb.uq.edu.au<p>
- heart development<br>
- cardiovascular biology<br>
- congenital heart defects<br>
Dr Kelly Smith
Group Leader, Genomics of Development and Disease Division
Investigator, Centre for Rare Diseases Research
Investigator, Breakthrough Science Program in Mechanobiology

P: +61 7 3346 2053
E: k.smith@imb.uq.edu.au

- heart development
- cardiovascular biology
- congenital heart defects

Genetics and cell biology of cardiac development

The heart is essential for life support and any defects that alter its structure or function can be fatal. Our laboratory, which was established in April 2013, investigates how the heart forms by using forward genetics to identify new, previously unidentified genes that regulate cardiac development.

In the embryo, the heart begins as a simple straight tube. During development, it undergoes a series of complex folding events, growth and tissue specialisations to give rise to a multi-chambered, beating organ made up of many tissue types. Any defects that occur during this process result in structural anomalies known as congenital heart defects, which are the most common form of birth defects.

Expanding our fundamental knowledge of heart development provides a framework for understanding cardiac disease, both inherited structural malformations and acquired heart disease. Understanding what cellular changes take place during heart development and defining the genetic regulators orchestrating this process are essential for devising strategies for cardiac repair.

To study heart development, our research primarily uses the zebrafish model. Zebrafish develop external to the mother (from the one-cell stage) and are optically transparent, permitting live imaging of the heart as the organ forms. We use the zebrafish model for this ease-of-use in functional gene identification, taking advantage of its amenability for high-throughput genetic screening as well as its tractability in live imaging. We are also translating our research into mammalian systems—such as mouse models and cell culture—validating the relevance and application of findings from the zebrafish model in mammals.

During 2013, we completed our first successful forward genetic screen for heart development mutants. With these novel mutants, we hope to identify new molecular and cellular regulators of cardiac development, significantly improving our understanding of how the heart forms. We also introduced a range of cutting-edge tools to help us conduct more targeted and efficient research, the findings from which will direct us in developing strategies for mending the diseased heart. 

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Research training opportunities

Please see IMB's postgraduate website for more information. 

Key publications

View more publications by Dr Smith via PubMed and via UQ Researchers.

Noël ES, Verhoeven M, Lagendijk AK, Tessadori F, Smith K, Choorapoikayil S, den Hertog J,Bakkers J. (2013) A Nodal-independent and tissue-intrinsic mechanism controls heart-looping chirality. Nature Communications 4: 2754.

Smith K.A.*, Noël E.*, Thurlings, I., Rehmann, H., Chocron, S., and Bakkers, J. (2011). Bmp and Nodal Independently Regulate lefty1 Expression to Maintain Unilateral Nodal Activity during Left-Right Axis Specification in Zebrafish. PLoS Genetics 7: e1002289.

Smith, K.A., Lagendijk, A.K., Courtney, A.D., Chen, H., Paterson, S., Hogan, B.M., Wicking, C., and Bakkers, J. (2011). Transmembrane protein 2 (Tmem2) is required to regionally restrict atrioventricular canal boundary and endocardial cushion development. Development 138: 4193-8.

Joziasse, I.C.*, Smith, K.A.*, Chocron, S., van Dinther, M., Guryev, V., van de Smagt, J.J., Cuppen, E., Ten Dijke, P., Mulder, B.J., Maslen, C.L., Reshey, B., Doevendans, P.A., and Bakkers, J. (2011). ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. European Journal of Human Genetics 19: 389-93.

Smith, K.A.*, Joziasse, I.C.*, Chocron, S., van Dinther, M., Guryev, V., Verhoeven, M.C., Rehmann, H., van der Smagt, J.J., Doevendans, P.A., Cuppen, E., Mulder, B.J., Ten Dijke, P., and Bakkers J. (2009). Dominant-negative ALK2 allele associates with congenital heart defects. Circulation 119: 3062-9.

Group contacts

Mr Sam Capon
Research staff
+61 7 334 62343
+61 7 334 62348
Ms Jessica De Angelis
Research higher degree student
+61 7 334 62343
+61 7 334 62348
Dr Kelly Smith
Group leader
+61 7 334 62053
Mr Baptiste Coxam
Research staff
+61 7 334 62341
+61 7 334 62348
Ms Daniela Grassini
Research higher degree student
+61 7 334 62343
+61 7 334 62348




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