Positions
Resident, Institute of Medical Genetics, University of Zurich, Switzerland. (2005 – 2006)
Resident, Swiss Epilepsy Center, Zurich, Switzerland. (2006 – 2007)
Resident, Institute of Medical Genetics, University of Tübingen, Germany. (2008 – 2009)
Consultant in Human Genetics, University Childrens Hospital, Bern, Switzerland. (2010 – 2014)
Professor, Institute of Human Genetics, University of Leipzig, Germany. (2014 – present)
Head of Institute of Human Genetics, University of Leipzig, Germany. (2014 – present)
Chair of Human Genetics, University of Leipzig, Germany. (2019 – present)
Honors and Professional Memberships
1998- Member, German Society of Human Genetics
2007- Member, Swiss League Against Epilepsy
2017- Member, ILAE Commission Clinical Genetic Testing in the Epilepsies
2018- Member, German Society of Epileptology
2019- Vice-President, German Society of Epileptology
Research focus
In the past 15 years, I have been working as clinical geneticist with focus on epilepsy genetics. My research focusses on application of high-throughput sequencing methods in clinical routine. My team was the first to publish on panel sequencing as diagnostic tool in epilepsy disorders in 2012. By applying this method, my team and I identified (or significantly contributed to the identification of) several novel genes associated with neurodevelopmental disorders with or without epilepsy. We performed numerous genotype-phenotype correlations on rare epilepsy disorders to delineate the respective phenotype as well as precision medicine approaches and to better understand underlying pathomechanisms. Furthermore, my area of expertise also covers meta-analyses on large datasets of panel or whole exome sequencing data addressing questions of variant distribution, diagnostic yield and phenotypic associations.