Elsebet Østergaard

Clinical Professor in the Department of Clinical Medicine at the University of Copenhagen's Faculty of Health and Medical Sciences, specializing in Clinical Genetics. Based at Blegdamsvej 3, Copenhagen N, with active clinical and research roles in genetic diagnostics and inherited disorders.

Research focuses on molecular mechanisms of genetic diseases with emphasis on neurodevelopmental disorders, mitochondrial dysfunction, and metabolic conditions. Recent work develops diagnostic algorithms for inherited metabolic disorders using metabolomics, investigates novel gene variants (UPF1, COQ4, ZEB2), and characterizes rare syndromes like SINO. Publications demonstrate strong interdisciplinary collaboration across neuroscience, biochemistry, and clinical pediatrics.

Key scientific contributions include:

• Development of untargeted metabolomics approaches for metabolic disorder diagnostics
• Identification of pathogenic variants in neurodevelopmental genes
• Elucidation of mitochondrial protein dysregulation mechanisms

Active in clinical genetics research with significant international collaborations, evidenced by multi-center publications and cross-institutional authorship. Current work bridges basic molecular research with clinical applications in genetic diagnostics.