Prof. Dr. Katja Lohmann is a molecular geneticist with a strong background in dystonia genetics. She is research group leader at the Institute of Neurogenetics, Center for rare diseases, University of Lübeck.
She is principle investigator of the project SP5: "Elucidation of novel genetic causes for dystonia".
She is experienced in mutational screenings and was trained in strategies for gene identification by exome sequencing at the Institute of Human Genetics at Radboud University Medical Centre in Nijmegen (The Netherlands) by Drs. J. Veltman and A. Hoischen. She has successfully applied NGS in a variety of projects to identify novel disease causes including the identification of TUBB4A8 mutations in DYT4 dystonia and PDGFB10 mutations in idiopathic basal ganglia calcification by genome sequencing, mutations in OPA311 and COX2012 in complex forms of dystonia by exome sequencing, or a de novo SNC2A13 mutation in a sporadic patient with intellectual disability and epilepsy.
Katja Lohmann was recently awarded the David Marsden Prize of Dystonia Europe to acknowledge the identification of a new dystonia gene. She has also conducted one of only two published genome-wide association studies to identify genetic risk factors for dystonia.
Luebeck has become a well-known center for the generation of induced pluripotent stem cells and has already generated several lines from patients with monogenic forms of dystonia.