CV Science

Sonia Stefanovic PhD - Developmental Molecular Biologist - Congenital Heart Disease

Course and current status

Area of expertise: Congenital heart disease, heart development, cell fate decisions, gene regulation, epigenetic regulation, non-coding DNA, molecular biology, transgenic mouse models, pluripotent stem cells

I obtained my PhD in Molecular and Cellular Biology in 2009 from the Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (ISTEM, Paris region), where I conducted my doctoral research in Dr. Michel Puceat’s laboratory. I subsequently completed postdoctoral training at the Academic Medical Center of the University of Amsterdam in the laboratory of Prof. Vincent Christoffels, followed by a second postdoctoral position at the Marseille Medical Genetics (MMG) research center in the laboratory of Dr. Stéphane Zaffran. In 2016, I was recruited as a permanent researcher by the French National Institute of Health and Medical Research (INSERM). Since 2022, I have been leading a research group at the Centre for CardioVascular and Nutrition Research (C2VN, Marseille), where my research focuses on the impact of metabolic and environmental factors on cardiac development and congenital heart disease.

Scientific summary

Since the beginning of my scientific career, I have been interested in the molecular mechanisms governing cardiac development, with the aim of understanding the origins of congenital heart defects. Over the past 20 years, my research has focused on the regulation of gene expression during cardiogenesis, particularly the role of non-coding regulatory DNA elements. My work has contributed to the identification of cardiac enhancers acting as cell-type-specific regulatory switches that control gene expression in distinct cardiac lineages.

During my PhD, I investigated the molecular mechanisms underlying early cardiac fate specification using pluripotent stem cell differentiation models, including mouse and human embryonic stem cells as well as induced pluripotent stem cells. During my postdoctoral training, I complemented these approaches with in vivo studies in transgenic mouse embryos to decipher how cardiac progenitor cells acquire distinct identities and differentiate into specialized cardiac cell types, including pacemaker cells.

I have developed extensive expertise in mouse genetics, developmental biology, cardiovascular phenotyping, and functional genomics, as well as in the use of high-throughput transcriptomic and epigenomic approaches, including RNA-seq, ATAC-seq, ChIP-seq, and single-cell multi-omics technologies. My research combines experimental and computational approaches to investigate how genetic and environmental factors interact to influence cardiac development and disease. Since 2022, I have led an independent research program focused on the impact of maternal metabolic disorders, particularly pregestational diabetes, on cardiac development and congenital heart defects through gene–environment interactions and epigenetic mechanisms.

Throughout my career, I have been awarded several highly competitive fellowships and research grants, including an European Molecular Biology Organization (EMBO) Fellowship (2010), a European Society of Cardiology Research Fellowship (2013), a Lefoulon-Delalande Fellowship (2014), and a Marie Skłodowska-Curie Individual Fellowship (2015). I subsequently secured an ERA-CVD grant (€250k, 2020) and an ANR Young Investigator grant (ANR-JCJC, €240k, 2021), which enabled me to establish and develop my own independent research group. I also obtained a fourth-year PhD fellowship from the Fondation pour la Recherche Médicale (FRM, €42k, 2025) and a grant from the Fondation de France (€100k, 2025) to further investigate the role of glucose metabolism and epigenetic mechanisms in congenital heart defects associated with maternal diabetes.