Identifying genetic and environmental factors causing birth defects: disease-gene discovery and roles for oxygen, and vitamin B3

Professor Sally Dunwoodie
Head, Embryology Laboratory, Developmental Biology and Stem Cell Biology Division
Head, Chain Reaction Program in Congenital Heart Disease Research
Victor Chang Cardiac Research Institute, Sydney
Faculties of Medicine and Science at the University of New South Wales

Abstract: Birth defects are present in 3-6% of live born babies and in greater numbers in those that die during gestation. 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. Recently we identified a compelling new cause of embryo loss and birth defects in humans and mice. We discovered gene mutations that lead to a deficiency in NAD, and that vitamin B3 supplementation during gestation completely prevents embryo loss and defects in mice.

Bio: Sally Dunwoodie gained a PhD researching 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’s team is identifying disease-causing mutations in hundreds of families with heart defects. They are also exploring the impact that environmental factors and gene-environment interaction have on mammalian embryogenesis. She has received awards including the ANZSCDB Emerging Leader Award, was a 2016 finalist in the NSW Premier's Woman of the Year Award, and won the NSW Premier’s Prize for Excellence in Medical Biological Science in 2017.