Since 2017, Arne Schäfer has served as a university professor specialized in genetics and clinical molecular biology at Charité – University Medicine Berlin, Germany, with his position becoming permanent in 2022. Since 2015, he has led a research group focused on the molecular genetics of oral inflammatory diseases within the Department of Periodontology, Oral Medicine, and Oral Surgery at Charité. During this time, he worked for many years in a research collaboration with the Department of Periodontology at Hacettepe University, Sihhiye, Ankara (Prof. Dr. Rahime Nohtucu) on a project funded by TUBITAK and the German Research Foundation (DFG) to identify genetic and epigenetic risk variants for periodontitis in the German and Turkish population.
His earlier academic journey also included a role as a postdoctoral fellow and junior research group leader at the Institute of Clinical Molecular Biology at the Christian-Albrechts-University Kiel, Germany, from 2006 to 2015, where he was also a member of the Research Excellence Cluster ‘Inflammation at Interfaces’. In 2015, he earned the Venia Legendi in genetics from Charité, having previously achieved habilitation and Venia Legendi in clinical molecular biology in 2013 from the Christian-Albrechts-University Kiel.
His academic foundation was laid at the Max-Planck-Institute of Molecular Plant Physiology in Potsdam, Germany, where he completed his Ph.D. in 2005, focusing on the characterization of ammonium transporters in the plant Arabidopsis thaliana. Prior to this, he earned a diploma in biology from the Free University Berlin in 2000, having conducted research on the positional cloning of a gene suppressor in Arabidopsis thaliana. His education also included a prolonged laboratory term at the University of Edinburgh, Scotland, were he worked on the molecular characterization of a gene in Arabidopsis thaliana.
Periodontitis is a complex inflammatory disease in which the host genome, in concert with several extrinsic factors, determines the susceptibility and progression. This talk summarizes our current knowledge of genetic factors that increase the risk of periodontitis, and which were identified in hypothesis-free systematic whole genome-profiling and sequencing studies (genome-wide association studies and whole exome- and RNA-sequencing studies (SIGLEC5, PLG, PF4 and CTSC). The functions of the identified genes suggest that the signaling pathways affected by the periodontitis-associated gene variants converge in functions for maintaining the gingival tissue barrier, for wound healing and tissue remodeling. Some genes with susceptibility variants also encode non-protein-coding RNAs. Specifically, these regulatory RNAs (CTD-2353F22.1 and CDKN2B-AS1), fine-tune inflammation to tissue remodeling processes by particularly regulating the confirmed risk genes SIGLEC5 and PLASMINOGEN, and the expression of collagen genes, respectively. In conclusion, the established genetic susceptibility genes provide new insights into molecular processes that cause periodontitis.