Researcher

Professor Sally Dunwoodie

Field of Research (FoR)

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Biography

Research Interests:
The complexity of embryonic development is apparent as 3% of babies are born with birth defects, with defects of the heart (congenital heart disease) accounting for a third of the total. We are elucidating the molecular and cellular effectors of embryonic development, and investigating the interplay between genetic predisposition and environmental factors. Birth defects can only be ameliorated  or prevented through an...view more

Research Interests:
The complexity of embryonic development is apparent as 3% of babies are born with birth defects, with defects of the heart (congenital heart disease) accounting for a third of the total. We are elucidating the molecular and cellular effectors of embryonic development, and investigating the interplay between genetic predisposition and environmental factors. Birth defects can only be ameliorated  or prevented through an understanding of their origins.

Broad Research Areas:
Congenital Heart Disease, Congenital Vertebral Malformation, Cell Biology and Gene Regulation, Genetics - Genome Analysis, Embryology, Hypoxia,  Cardiology and Vascular Disease 

Qualifications:
BSc (Hons I), PhD

Society Memberships & Professional Activities:
Australian and New Zealand Society for Cell and Developmental Biology; Society for Developmental Biology (USA); Matrix Biology Society of Australia and New Zealand, Australian Vascular Biology Society; Australian Society for Medical Research; American Physiological Society.

Specific Research Keywords:
Embryonic Development, Birth Defects, Gene-Environment Interaction, Heart, Vertebral Column, Somites, Placenta, Genetics, Molecular Biology, Notch Signalling, Hypoxia.

Summer Scholarships Available

Contact Sally Dunwoodie directly at s.dunwoodie@victorchang.edu.au OR go to

http://www.victorchang.edu.au/home/study-careers/students/summer-scholarships/

Honours, Independent Learning Project (ILP) and PhD Student Projects:

1) Identifying the causes of vertebral column defects using whole exome sequence analysis  Congenital vertebral defects occur with an incidence of 0.5-1 per 1,000 live births, and can arise from incorrect formation of the vertebral precursors (somites) during early embryogenesis. We have made much progress over the last decade into the genetic causes of congenital vertebral defects (Turnpenny et al, 2007 Dev Dyn 236, 1456; Sparrow et al, 2008 Hum Mol Genet 17, 3761). In particular, many cases of vertebral defects are caused by mutation of components of the Notch signalling pathway. Advances in technology, such as whole exome sequencing have greatly accelerated the discovery of causative mutations. For example, we have recently used whole exome sequencing to identify a causative mutation in TBX6 in a family with dominantly inherited congenital vertebral defects (Sparrow et al, 2013 Hum Mol Genet 22, 1625). This project will use whole exome sequencing to identify candidate causative sequence variants in human cases with vertebral column defects, and then use in vitro and in vivo systems to determine the functional significance of these variants. The student will gain a comprehensive understanding of the bioinformatic analysis of whole exome sequence data, and technical training in mammalian cell culture, mammalian embryology, molecular biology, cell biology, histology and sophisticated imaging.

2) Investigating the causes of congenital heart disease using whole exome sequence analysis  Congenital heart disease (CHD) occurs in about  0.8 per 100 live births and has many forms. Although it is the most common type of birth defect, representing a third of the total, only about 20% of cases can be identified as having a genetic cause. This project will use whole exome sequencing to identify candidate causative sequence variants in human cases of CHD, and then use in vitro and in vivo systems to determine the functional significance of these variants. The student will gain a comprehensive understanding of the bioinformatic analysis of whole exome sequence data, and technical training in mammalian cell culture, mammalian embryology, molecular biology, cell biology, histology and sophisticated imaging.

3) Gene-environment interaction in the causation and pathogenesis of birth defects Many birth defects appear to arise sporadically. Of the genetically defined cases there can be variable penetrance and expressivity.  That means not all individuals carrying the mutation have a defect and those with the same mutation may have different types of defects. We have shown in mouse that genetic predisposition to developing a birth defect can interact with an environmental factor (hypoxia) to increase the penetrance and severity of the defect (Sparrow et al. Cell. 2012;149:295).  This project will further investigate the interplay of genetic and environmental factors on various developmental defects in the mouse embryo. In addition, the molecular mechanism via which hypoxia disrupts these developmental processes will be elucidated.  The student will gain a comprehensive understanding of the process of embryonic vertebral development, and technical training in mammalian embryology, molecular biology, cell biology, histology and sophisticated imaging.

4) Characterising the function of Notch ligands and receptors in embryonic development  The Notch signalling pathway is evolutionarily conserved and plays a crucial role in various aspects of embryogenesis (formation of the heart, vertebral column formation, vasculature, muscle, nervous system) and in adult diseases such as cancer. A number of research projects are available that investigate Notch signal transduction. The student will gain a comprehensive understanding of and technical training in mammalian cell culture, mammalian embryology, molecular biology, cell biology and live cell imaging.

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Location

Victor Chang Cardiac Research Institute
405 Liverpool St, Darlinghurst, Sydney, New South Wales 2010

Contact

612 9295 8613
612 9295 8601