Sonia Stefanovic, CRCN Inserm at the Marseille Medical Genetics Center (MMG - AMU/Inserm), will be the French scientific leader of the DEFIANCE project "Defining Environmental Factors Influencing and Affecting Neonatal Cardiac health through Epigenome profiling". This European-funded research project will be carried out by an international consortium of 3 partners (France, Germany, Belgium).
Reinforcing the visibility of the MMG teams working in the field of congenital heart defects, this 3-year multidisciplinary translational program aims to improve our understanding and diagnosis of congenital heart defects.
The idea that the vast majority of human diseases are neither the result of an isolated environmental exposure nor the result of a single gene mutation is well known: most often, the effects of genetic and environmental risk factors combine. Among congenital anomalies that result from gene-environment interaction, heart defects are frequently mentioned, but the pathophysiological mechanisms and associated gene-environment interactions are not well known. Maternal diabetes present before or during pregnancy has been shown to be associated with an increased risk of developing congenital cardiovascular disease (5-fold increased risk). DEFIANCE integrates innovative molecular biology approaches (allowing the study of the transcriptome and epigenome) as well as patient cohorts to study the impact of maternal diabetes on congenital heart disease and allow the development of a diagnostic tool for women of childbearing age.
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