About me
An engineer by training, with PhD studies involving the genomics of trypanosomatid parasites, mainly in bioinformatics. Post doctoral studies brought laboratory experience as well as more genomics and bioinformatics expertise in parasitology and then human infection biology. As a clinical laboratory scientist and clinical researcher I have studied human genetic disease - and help diagnose patients with rare genetic conditions.
Being an engineer by training is useful for tackling problems in modern medicine, where massive amounts of data can be analysed to the benefit of patients. I seek to deepen our understanding of disorders at the molecular level, and in doing so further our basic understanding of ourselves.
Research description
I investigate disease at the molecular level. The journey towards treatment for the rare genetic disorders begins with a molecular diagnosis. We understand the molecular cause of some 4000 out of at least 8000 rare genetic disorders. With a background in large scale genomics and bioinformatics development, I help improving diagnostics for the known disease genes. While establishing and improving MPS technology in the clinic, we also explore and investigate the remaining diseases for answers.