Elsebet Østergaard

    20052024

    Research activity per year

    Personal profile

    Expertises

    Mitochondrial disorders; novel disease gene identification; exome sequencing

    Main research areas

    Mitochondrial disorders; novel disease gene identification; exome sequencing

    Current research

    The main focus of my research in mitochondrial disorders is to identify novel nuclear genetic causes. I use exome sequencing to identify variants and methods such as blue native PAGE and functional complementation to assess the pathogenicity of variants. I also participate in a Nordic/Dutch/Belgian collaboration, MCRN, on clinical findings in mitochondrial disorders.

    I am also interested in using exome and genome sequencing for disease gene identification in the diagnosis of patients with unsolved syndromes including intellectual disabilities.

    Potential conflicts of interest

    None

    External positions

    University of Copenhagen

    2005 → …

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