Professor Sally Dunwoodie

Professor Sally Dunwoodie

Conjoint Professor

Qualifications and Training:
BSc (Hons I), University of Sydney

PhD, Children's Medical Research Institute, University of Sydney

Postdoctoral Research Fellow, National Institute or Medical Research, London, UK

Medicine & Health
School of Clinical Medicine

Professor Sally Dunwoodie

Deputy Director, Victor Chang Cardiac Research Institute (VCCRI)

Director, VCCRI Innovation Centre

Head, Embryology and Congenital Heart Disease Research

Professor Dunwoodie's research is focussed on understanding understanding genetic and environmental factors that affect mammalian embryogenesis and cause birth defects.

Professor Dunwoodie established and leads the Chain Reaction Program in Congenital Heart Disease, the largest Australian genome sequencing in...

Phone
612 9295 8613
E-mail
s.dunwoodie@victorchang.edu.au
Location
Victor Chang Cardiac Research Institute 405 Liverpool St, Darlinghurst, Sydney, New South Wales 2010

Dunwoodie has secured $64.9M (excluding equipment): $23.0M direct to her laboratory, $14.9 to her collaborators, and $27M in network funding. She has secured 19 Tier 1 Project grants (12 as CIA), 1 NHMRC Program Grant (CIE) and 1 NHMRC Synergy Grant (CIA). She has secured five Senior/Principal/EL3 Research Fellowships, and 11 Fellowships/Scholarships have been awarded to her staff and students.

 

2019 Fellow, Australian Academy of Health and Medical Sciences

2019 Research Excellence Award, Top Ranked Project Grant, NHMRC

2018 Eureka Prize for Scientific Research, Australian Museum and UNSW

2018 President’s Medal, Australian and New Zealand Society for Cell and Developmental Biology (ANZSCDB)

2018 Finalist, The Australian newspaper’s Australian of the year

2018 – 2022 Principal Research Fellowship, National Health and Medical Research Council (NHMRC)

2017 NSW Premier's Prize for Excellence in Medical Biological Sciences

2016 Finalist, NSW Premier's Woman of the Year Award

2014 100 Women of Influence Award, The Australian Financial Review and Westpac

2014 Top 10 Research Projects Award, NHMRC

2013 – 2017 Senior Research Fellowship, Upper Level B, NHMRC

2012 Top 100 Thinkers in Sydney, Sydney Morning Herald

2008 – 2012 Senior Research Fellowship, Upper Level B, NHMRC

2008 Emerging Leader Award, Australian and New Zealand Society for Cell & Developmental Biology (ANZSCDB)

2003 – 2007 Senior Research Fellowship, Pfizer Foundation Australia

2003 – 2006 RD Wright Career Development Fellowship, NHMRC- declined

1998 – 1999 Postdoctoral Fellowship, Human Frontiers Scientific Program

1996 – 1997 Postdoctoral Fellowship, National Institute for Medical Research

Key Research Areas 

  • Embryonic development
  • Congenital heart disease
  • Genetic and environmental causes of birth defects

Research Overview 

 The Embryology Laboratory is identifying the genetic and environmental causes of birth defects, including congenital heart disease. Gene mutations are being identified in patients using whole genome sequencing and mouse models are being developed to understand how genetic mutations and environmental factors impact on embryogenesis. Research projects underway in the Embryology Laboratory, led by Professor Sally Dunwoodie:

1. Genetic causes of congenital malformation

Families with congenital malformation are being recruited and gene mutations are being identified using whole genome sequencing, and in-house bioinformatics. Some mutations occur in genes known to cause congenital malformation. These mutations are tested for pathogenicity using an array of in vitro assays. Many mutations arise in “new” genes and thus their relevance to congenital malformation is being established in preclinical models, such as the mouse.
We have discovered that:

  • mutations in DLL3, MESP2, LFNG, HES7, TBX6, or RIPPLY2 cause vertebral defects
  • mutations in KYNU, HAAO or NADSYN1 causing multiple congenital malformations

2. Environmental causes of congenital malformation

We are determining if risk factors associated with congenital malformation in humans, disrupt embryogenesis in mice. Moreover, a number of risk factors lead to hypoxia in the embryo; therefore, we use short-term gestational hypoxia to disrupt embryogenesis and determine the molecular and cellular sequelae.
We have discovered in mice that:

  • hypoxia inhibits fibroblast growth factor (FGF) signalling, which disrupts heart and vertebral formation
  • hypoxia induces the unfolded protein response (UPR) and in doing so inhibits FGF signalling

3. Gene-Environment interaction (GxE) as a cause of congenital malformation

A genetic predisposition to a birth defect might, in combination with an adverse environmental stress, disrupt embryogenesis. In mouse, we are exploring the extent to which GxE disrupts embryogenesis.
We have discovered in mice that:

  • A genetic predisposition interacts with environmental stress (GxE) to disrupt embryogenesis causing heart, vertebral and/or kidney defects

4. Nicotinamide adenine dinucleotide (NAD) deficiency and congenital malformation

We are exploring the role of NAD in mammalian embryogenesis.

We have discovered that:

  • NAD deficiency causes multiple congenital malformations in humans through mutation in KYNU, HAAO or NADSYN1.
  • NAD deficiency causes multiple congenital malformations and embryo loss (miscarriage) in mice through mutation in Kynu or Haao
  • NAD deficiency, congenital malformations and embryo loss (miscarriage) in mice are prevented by vitamin B3 (niacin) supplementation during gestation
  • Diet alone can cause NAD deficiency and adverse pregnancy outcomes in wildtype mice