Julie Steffann's research focuses on the development and clinical translation of innovative genomic approaches for the diagnosis of rare genetic diseases, with a particular interest in the impact of impaired cellular energy metabolism on early human embryonic development. In this context, she investigates the consequences of mitochondrial diseases on preimplantation development and the interactions between the mitochondrial and nuclear genomes during human embryonic development, particularly in the context of mitochondrial replacement therapy. She also develops non-invasive prenatal diagnostic tools based on the analysis of circulating fetal DNA. As principal investigator, she has led several funded projects, including PRENATOME and PRENATSAFE, aimed at developing and evaluating novel non-invasive prenatal diagnostic approaches for monogenic disorders and assessing their clinical and health-economic impact. More recently, she has been developing long-read sequencing approaches to broaden access to preimplantation genetic testing and improve the diagnosis of complex genetic disorders.
