Dr. Jernej Kovač is a biochemist specializing in genetic diagnostics and genomic medicine of rare diseases. He earned his BSc in Biochemistry from the University of Ljubljana. His PhD research at the University Children’s Hospital focused on the genomics of oxidative stress in autism spectrum disorder. Post-PhD, he led projects on pediatric obesity genetics and rare disease diagnostics, securing funding from the Slovenian Research Agency. He has contributed to key national and international initiatives, including the Slovenian Genome Project, Genomic Newborn Screening Project, Slovenian Reference Genome Project and the Genome of Europe, advancing genomic medicine in Slovenia. His expertise in next-generation sequencing (NGS) has been instrumental in identifying genetic drivers of pediatric diseases in pediatric population of Slovenia. Leveraging his expertise, Kovač has contributed to numerous highly cited publications, driving advancements in genetic and epigenetic research, particularly in pediatric endocrinology, immune disorders, and the integration of genomics into newborn screening programs.