Consolidated Researcher Details:
As a trained mathematician, I obtained my first degree in Probability Theory and Statistics at the University of Göttingen, Germany, in 1984. My major research interests were the convergence properties of discrete-time and continuous-time stochastic processes.
After joining Jörg Schmidtke's group at the Institute of Human Genetics in Göttingen, my focus changed from statistics to genetics. I specialized in linkage analysis and gene mapping and obtained a PhD from Göttingen University for my work on "Algorithms for the Restriction Site Mapping of DNA Molecules" in 1987.
After holding a post-doctoral position at the Göttingen institute for four years, I moved to Hanover, Germany, and became Senior Research Fellow at the Institute of Human Genetics, Hanover Medical School, in 1991. There, I also received formal recognition as an academic teacher of human genetics ("Habilitation") in 1994 for my work on "The Molecular Basis and Medical Relevance of Genetic Variability".
The award in 1995 of a Heisenberg Fellowship, endowed by the Deutsche Forschungsgemeinschaft, allowed me to move to Cardiff, Wales. There, I worked at the Institute of Medical Genetics and the Department of Psychological Medicine from January 1996 until October 2001. I was awarded a Visiting Professorship in Mathematical Genetics by the University of Wales College of Medicine (now: School of Medicine, Cardiff University) in 1998, followed by a formal appointment to a Chair in the same discipline in January 2000.
My scientific interests by that time were diverse, covering the many different aspects of genetic epidemiology, population genetics and theoretical biology. In a long-lasting collaboration with David N. Cooper, Cardiff, I have pioneered the development of methods for the statistical meta-analysis of mutational spectra and their application to germline mutations associated with human inherited disease. These studies have provided novel insights into the in vivo mechanisms of germline mutation in humans, and served to demonstrate that the process of mutation is strongly influenced by the surrounding DNA sequence. The data used for analysis were made publicly available on the Internet in 1996 as the Human Gene Mutation Database, a bioinfomatics service that is now updated and published via the WorldWideWeb on a regular basis. Other subjects of particular interest to me were the forensic application of DNA typing technology ("DNA fingerprinting") and the genetic dissection of complex phenotypic traits.
In September 2001, I was appointed to a Chair in Medical Informatics and Statistics at the Christian-Albrechts-University, Kiel, Germany. While maintaining a focus on theoretical biology and mathematical genetics, the move to Kiel opened up a new professional perspective for me, because I became more involved into teaching and counseling. The Kiel Institute of Medical Informatics and Statistics, which has been under my directorship since April 2002, is responsible for the statistical training of medical students and provides statistical advice to students, doctors and scientists from the local Medical Faculty. Currently, its seven full-time members of staff take care of more than 150 different projects per year. At the same time, the Institute also developed a comprehensive scientific profile in mathematical genetics; it currently hosts one of the Centres of Expertise in Genetic Epidemiology established by the German National Genome Research Network in 2004.
One of my major professional activities in Kiel has been the set-up, management and scientific exploitation of the PopGen biobank, which was established in 2003 in close collaboration with Stefan Schreiber of the Institute of Clinical Molecular Biology, Kiel. PopGen is a population representative collection of biomaterials and data from >30,000 patients and control individuals from Northern Germany. It covers many common human diseases, including coronary heart disease, inflammatory bowel disease, several different types of cancer, and also hosts a longevity cohort. During its six years in existence, PopGen has successfully established itself as a medical research infrastructure of wide national and international recognition. It has facilitated more than 50 high-ranking publications on molecular and medical genetic research topics. The involvement with PopGen has also stimulated my general interest in biobanking, including its legal and information technological aspects.
During my professional career, I have authored or co-authored four books, several book chapters and more than 230 publications in peer-reviewed scientific journals. I currently serve on several editorial boards and act as an external advisor to the Encyclopaedia of the Life Sciences. Since 2007, I have been one of the Vice-Chairmen of the Board of Directors of the German Telematics Platform for Medical Research Networks (TMF).