The emergence of new methods allowing massively parallel sequencing of the human genome has revolutionized genetic research and given a fresh and fascinating impetus to the field.

Our researchers are passionate in their pursuit, for example, to elucidate the genetic causes of rare congenital diseases and to increase our understanding of how cancer develops and may be treated. We are also striving to reveal the functions of basic mechanisms involved in biological processes and signaling pathways and to disclose the causes of genomic instability and its role in congenital disease and in aging processes. Our findings expand our knowledge about the molecular basis of genetic diseases and translate into improved diagnostics and genetic counselling. In the long term, we hope, they will contribute to the development of new therapeutic strategies.


Main Research Areas

Our Institute builds on a dynamic and productive network of scientists. While our research groups vary in their major areas of interest, they all make use of the latest methods and technologies to find answers to their research questions. They address fundamental cellular processes such as “Genomic Instability & Aging” (Wollnik) or “Hedgehog/Patched Signaling Pathway & Tumor Development” (Hahn). In parallel, they also focus on the genetic and molecular causes of rare skeletal and connective tissue disorders (Kornak), hereditary hearing loss (Vona) or the pathomechanisms underlying other specific diseases…

Mutation­Mining Team

New high-throughput technologies and, above all, next generation sequencing (NGS) technologies as whole-genome, whole-exome and “Mendeliome” sequencing have made it easier to discover disease-associated genes and disease-causing mutations. Our MutationMining (MM) Team searches the data generated by NGS-based analyses to detect novel causative genes and mutations in patients with various rare genetic diseases and undiagnosed congenital syndromes…


Section of

Developmental Genetics

Cancer can be linked to signaling pathways that play an important role during embryonal development. Our goal is to understand the role of the „Hedgehog“ and „Wnt“ signaling cascades in the formation and progression of tumors of the skeletal muscle, the skin and of the brain. In addition, we are analyzing the impact of specific stem cells in tumor development. Our projects are supported by the German Research Foundation, the Wilhelm-Sander-Stiftung und the German Cancer Aid….


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