Area(s) of interest
Johan den Dunnen works as professor Medical Genomics at the LUMC, in the departments Human Genetics and Clinical Genetics. He coordinates the 'Global Variome shared LOVD', the database initiated in Leiden to store internationally a.o. all Duchenne variants, and he established the Leiden Genome Technology Center (LGTC), the LUMC facility developing and supporting DNA- and RNA-technology.
Johan started in Leiden performing research on Duchenne and Becker muscular dystrophy (DMD/BMD). His research group developed several diagnostic methods (e.g. the Protein Truncation Test (PTT)) and a possible treatment for DMD/BMD and other diseases, the 'exon skipping' technology. Currently his work focusses on the application in research and diagnostics of 'next generation sequencing' technology, in particular determining the complete DNA sequence of an individual and RNA-expression profiling.
He is active for several national and international organisations and was the driving force behind the development of the HGVS nomenclature, the international standard for the description of variants in DNA, RNA and protein sequences. He is passionate to convince people to share their data more effectively: DNA diagnostics is based on sharing information on genes, variants and phenotypes, without sharing DNA diagnostics would not be possible. His group developed the LOVD-platform and initiated the international 'Global Variome shared LOVD' databases supporting DNA-diagnostics: as far as we know, has a DNA variant consequences for a patient or not.
Leiden University Medical Center
2333 ZC Leiden
P.O. Box 9600
2300 RC Leiden