I obtained MD and PhD degrees at the Faculty of Medicine, University of Ljubljana and MA degree at the University of Leuven, Belgium. Since 2014 I work as a staff metabolic pediatrician at the Department of Pediatric Endocrinology, Diabetes and Metabolism, UMC – University Children’s Hospital Ljubljana, Slovenia. From 2015 I am an assistant professor of pediatrics at the Faculty of Medicine, University of Ljubljana, Slovenia. I also serve as a member of National Medical Ethics Committee of Slovenia (from 2013) and have served as a deputy-member of Committee on Bioethics (DH-BIO) of Council of Europe (2012-2017). My main clinical and research interests include rare diseases, familial hypercholesterolemia, rare and secondary dyslipidemias, genetic disorders and screening programs in neonatology/pediatrics and medical ethics. Altogether, I (co)authored over 80 peer-reviewed publications.
I am co-leading the Slovenian program of newborn screening (clinical part) and leading the national program of universal familial hypercholesterolemia screening (which is performed nation-widely in 5-year old children), including the program of modern NGS diagnostics of primary dyslipidemias at the UMC Ljubljana. I am also a member of the working group for the National registry of non-malignant rare diseases, and coordinating the pediatric part of the Slovenian National registry of familial hypercholesterolemia and rare dyslipidemias, serving as a National lead investigator at the EAS FHSC. I serve as an expert member of two ERNs for rare diseases – MetabERN and EndoERN (Adrenals). I am also a member of the newly formed ERN Working group on Newborn screening and a member of Eurordis working group on newborn screening.
Currently I am a WHF Emerging Leader and a Fulbright Visiting Scholar at Stanford University (2021/2022).