Research interests: Human genetic variation - its impact for common diseases and personalized medicine -
One of the fundamental questions of human genetics today is how the individual genetic variation affects the disposition to common diseases like cancer and how we can use our growing knowledge about individual differences to develop a better treatment.
My own research interest is focused in this direction encompassing two major areas. The first one is human genetic variation and its impact for common diseases and the second main focus of my work is the translation of new sequencing technologies into diagnostic settings and its application in the context of personal medicine.
Together with the department of Vertebrate Genomics my group is involved in the 1000 Genomes Project. The aim of these consortium is to create a finegrained map of human variation using more than 1000 human genomes in different populations. Comprehension of the natural human variability - only healthy individuals have been randomly selected - will be an important background knowledge for the identification of disease relevant variants in disorders like cancer or Alzheimer. Currently, we focus to use new sequencing technologies in the analysis of different cancer subtypes like colon cancer, lung cancer, leukemia or prostate cancer. In the international Oncotrack consortium, a subproject of which is dedicated to the identification of new biomarkers in colon cancer, my group is responsible for the full length transcriptome analysis to identify new fusion genes and splice variations.
The second focus of my work is the translation of new sequencing technologies into diagnostic settings. Patient stratification is the main objective here, to individually select the most favorable therapeutic options suggested by the genetic background observed - in accordance with the current paradigms of the disease. In this context we are involved as managing and central data analyzing site in the “Precision” study. Here, a german consortium of seven leading pathology departments is using different technologies (NGS, sanger sequencing, real time PCR) for the analysis of EGFR in non-small-cell lung carcinoma (NSCLC) patients to see which technology delivers the best results in a clinical diagnostic environment.
Many genome related findings in science lead to questions which can only be addressed in model organisms, the sequencing of which is yet another, more basic science oriented target of our work. Here the development and application of sequencing based assays contributes tremendously to the advancement of science. For example the sequencing of the canary bird in collaboration with the MPI for Ornithology in Seewiesen, will help to elucidate the genetic factors involved in speech development and memory. Together with the group of Markus Ralser (University of Cambridge) we are involved in several projects to understand how alterations of the metabolic network influences the aging process, and several disorders at the forefront cancer. Our prime model organism for these projects is the yeast Saccaromyces cerevisiae, as this organism facilitates unachieved efficiency in the combination of eukaryotic functional genomics and targeted metabolomics.