Identifying genetic and environmental causes of congenital malformation

Professor Sally Dunwoodie, Head, Embryology Laboratory, Victor Chang Cardiac Research institute, Sydney, NSW

Birth defects are present in 3-6% of live born babies and in greater numbers in those that die during gestation. Birth defects are the leading non-infectious cause of infant death and are more prevalent than most chronic childhood diseases such as autism, cancer and type 1 diabetes. The causes of birth defects are largely unknown with genetic and environmental factors, and a combination of these, proven and suspected to be the cause. We are identifying genetic and environmental factor that cause vertebral column and heart defects in human and mouse.

Sally Dunwoodie gained a PhD researching the genetics of muscle development, at the Children’s Medical Research Institute, University of Sydney. She undertook postdoctoral training in embryology at the National Institute for Medical Research in London. There she identified numerous genes necessary for normal mammalian embryogenesis. She has defined genetic causes of congenital vertebral defects with diagnostic genetic tests now available worldwide. Sally is embracing some of the newest genomic technologies to identify disease-causing mutations in hundreds of families with heart defects, among others. She is also exploring the impact that environmental factors and gene-environment interaction have on embryogenesis. She has received awards including the ANZSCDB Emerging Leader Award, the Australian Financial Review and Westpac 100 Women of Influence Award, and was a 2016 finalist in the NSW Premier's Woman of the Year Award. Sally Dunwoodie is Head of the Embryology Laboratory, Head of the Chain Reaction Program in Congenital Heart Disease Research, and Deputy Director of the NSW Cardiovascular Innovation Centre, at the Victor Chang Cardiac Research Institute. She is a Professor in the Faculties of Medicine and Science at the University of New South Wales and President of the Australian and New Zealand Society of Cell and Developmental Biology (ANZSCDB).