My Scientific Work My Scientific WorkThis work started with the discovery of some new mutations of the b2-adrenoceptor gene (ADRB2), the development of a screening system for different receptor alleles and an association study of the b2 genotypes with salt-sensitivity. This study has made up my Master's Thesis (published 1997) and is available online and as a PDF document.
From the mid-90ies until 2002 I was trying to do association and linkage studies on the b2-adrenoceptor and hypertension. As several mutations on the receptor gene show differences in their physiological behaviour, we did complete sequencing of the gene, using direct sequencing on an ABI377. Most of this work (and a few other studies as well) was done in cooperation with the Department of Clinical Pharmacology, Queen Mary College (University of London), and St. Bartholomew's Hospital, London. That's the reason you found a message stating I am at St. Bart's Hospital on my homepage quite often in the years around the millennium. My PhD thesis was finished in 2001 and is available online and as PDF document. The results of this work have been published subsequently in J Hypertens 24(3):471-477 (2006).
For a quick overview, I've put the essentials on adrenergic receptors here.
Since the end of 2003, I am working on a new fascinating project on meningococcal disease
and its connection to genetic polymorphisms. This project has already lead to interesting
results, which we started to publish in 2005. The two
papers on susceptibility and outcome in meningococcal sepsis in association with distinct polymorphisms in
the Protein C and the PAI-1 gene have resulted from this work.
From 2008, we have built some fruitful cooperations with other groups for a combined effort to determine the
genetics of meningococcal sepsis. This led to the first successful genome wide association stufy (GWAS) on meningococcal disease, published in Nature Genetics in 2010.
A list of publications is available as well.
