Jernej Kovac

Background

About Jernej Kovac

As a genomic scientist with a specialization in pediatric genetics, I dedicate my work to unlocking the genetic underpinnings of rare diseases and advancing personalized medicine. Currently, I serve as a Senior Analyst in Genomics at the Clinical Institute of Special Laboratory Diagnostics, Division of Pediatrics, University Medical Centre Ljubljana (CISLD), where I focus on diagnosing rare genetic conditions in children and pioneering genomic solutions for early disease intervention. Additionally, I am an Assistant Professor at the Faculty of Medicine, University of Ljubljana. Core Focus Areas: Rare Pediatric Disease Diagnostics: I utilize Next-Generation Sequencing (NGS) and other advanced technologies to identify genetic drivers of complex pediatric conditions. Pediatric Obesity Genetics: My research explores genetic contributors to pediatric obesity, leading national projects that aim to pinpoint polygenic influences on metabolic disorders. Genomic Screening & Preventive Medicine: As the Principal Investigator of Slovenia's "Genomic Screening of Newborn Children" project, I spearhead efforts to integrate genomic insights into routine screening, aiming to transform early diagnostic capabilities and preventive care. Key Contributions & Projects: Slovenian Genome Project: A significant player in Slovenia's national effort to develop a comprehensive reference genome, facilitating new insights into population genetics and personalized healthcare. Universal Newborn Screening Programs: My work strengthens Slovenia’s newborn screening by incorporating genomic analysis, thus improving early disease detection and intervention. Hypercholesterolemia Screening Program: I actively contribute to protocols that enhance early diagnosis and management of familial hypercholesterolemia, addressing a critical public health need. Technical Expertise: With deep expertise in NGS, genomics, and molecular biology, I bring a precision-focused approach to genetic diagnostics. My experience spans genomic data analysis, clinical diagnostics, and project leadership, blending a robust scientific background with hands-on technical skills. Collaborations & International Impact: I actively collaborate on European projects, including Genomic Data Infrastructure and Genome of Europe, contributing to multinational efforts in genomic data standardization and infrastructure. These engagements allow me to stay at the forefront of innovations in genomic science, with a focus on translational applications for healthcare.