|Somitogenesis and Congenital Vertebral Malformation
Professor Sally Dunwoodie is an internationally renowned biomedical researcher at the Victor Chang Cardiac Research Institute. She has dedicated her life’s work to understanding how babies develop and to finding out why some 3-6% have birth defects. Some 4.9 million babies are born with a serious birth defect around the globe every year.
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.
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.
VCCRI - Embryology