Professor Sally Dunwoodie

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,...view more

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 initiative in congenital heart disease. The program is discovering the genetic causes of heart defects family by family, with the promise that genetic diagnosis of birth defects will become a routine part of clinical practice.

Professor Dunwoodie is also a world leader in identifying causes of vertebral defects, having discovered six of the seven genes known to cause such defects.

Professor Dunwoodie’s discoveries have already changed clinical practices and have led to genetic diagnostic tests being available worldwide. In 2017 Professor Dunwoodie’s team revealed a double breakthrough that has the potential to prevent some cases of recurrent miscarriage and multiple types of birth defects (Shi et al New England Journal of Medicine 201). They discovered that deficiency in NAD, a vital molecule that is required for hundreds of activities in all cells, causes recurrent miscarriage and multiple types of birth defects in humans and mice. These defects were completely prevented with supplementation of niacin (vitamin B3) during pregnancy in mice. These discoveries from the Victor Chang Cardiac Research Institute are believed to be amongst Australia’s greatest ever in pregnancy research.

Specific Research Keywords:
Embryo, Embryonic Development, Birth Defects, Congenital Malformation, Environment, Gene-Environment Interaction, Heart, Vertebral Column, Genetics, Molecular Biology, Notch Signalling, Hypoxia, Nicotinamide Adenine Dinucleotide, NAD, vitamin B3, niacin

Summer Scholarships Available

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

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

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

My Grants

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.

My Qualifications

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

My Awards

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

My Research Activities

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