Biologists by training, working in between computer science and biology. Current research interest is unravelling molecular mechanisms, particularly the role of the genome and epigenetics, of rare diseases by knowledge discovery techniques. Special interest in e-science aspects, such as multidisciplinary collaboration, workflows, semantic web and their application for good research practices for digital science. Coordinating the BioSemantics research group of the Human Genetics Department, Leiden University Medical Center. Active in the Dutch Techcentre for Life Sciences / Elixir-NL on the topic of data interoperability.