Johan T den Dunnen is professor Medical Genomics in the LUMC, working in the departments of Human Genetics and Clinical Genetics.

More information about Johan den Dunnen

Johan T den Dunnen is professor Medical Genomics in the LUMC, working in the departments of Human Genetics and Clinical Genetics.

DNA diagnostics

Performing research in the area of genetic diseases. Initiated the Leiden Genome Technology Center (LGTC), the genomics and transcriptomics facility of the LUMC. His research focuses on the development and application of high-throughput genome technology in research and diagnosis. Started his career on Duchenne and Becker muscular dystrophy (DMD/BMD) and with his group developed several diagnostic tests as well as the “exon skipping” technology as a potential treatment for DMD/BMD and other diseases.

Current focus: next generation sequencing and data analysis pipelines, especially whole exome/genome sequencing and RNA-expression profiling. His group build the LOVD platform and initiated the LOVD databases facilitating DNA-diagnostics: does a variant have any consequences for the patient or not. He is active for several international organizations promoting data sharing and was a driving force in establishing the HGVS nomenclature, the world-standard to report variants in DNA, RNA and protein sequences.

DNA diagnostics is based on sharing data on genes, variants and phenotypes. Without sharing DNA diagnostics is not possible.

Academic career

Studied Biology at the Katholieke Universiteit Nijmegen (Nijmegen, Nederland)

PhD thesis 'Evolution of eye-lens crystallin genes', department Molecular Biology, Katholieke Universiteit Nijmegen, promoter: Prof.dr. J.G.G. Schoenmakers (Nijmegen, Nederland), April 10, 1987.

Professor Medical Genomics, appointed Januari 1, 2009.
 

Publications