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Rigshospitalet - en del af Københavns Universitetshospital
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Expertise

Mitochondrial disorders; novel disease gene identification; exome sequencing

Primære forskningsområder

Mitochondrial disorders; novel disease gene identification; exome sequencing

Aktuel forskning

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 sequencing for disease gene identification in the diagnosis of patients with unsolved syndromes including intellectual disabilities.

Mulige interessekonflikter

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ID: 31001050