Johan Den Dunnen

Leiden University Medical Center

Johan  Den Dunnen

Johan den Dunnen (PhD) is professor in Medical Genomics and a staff member at the departments of Human and Clinical Genetics. He has a long-standing interest in research and diagnosis of DMD and introduced several diagnostic techniques, incl. pulsed-field gel-electrophoresis and the Protein Truncation Test. He initiated the Leiden Muscular Dystrophy pages, curates the DMD mutation database (storing all DMD mutations published and submitted worldwide) and he established the LOVD system to collect and display gene variants, which will be employed to set up the Dutch DMD patient registry. Finally, he is the original autor intellectualis of the exon skipping approach and has supervised the generation of the hDMD mouse model, containing a full copy of the human DMD gene in the mouse genome. The human gene functionally compensates the lack of mouse dystrophin in the mdx mouse, so hDMD/mdx mice are healthy. This mouse models allows testing human specific AONs in vivo.