Ludger Schöls

Prof. Dr. Ludger Schöls serves as a Professor and Group Leader at the Department of Neurology within the Faculty of Medicine at the University of Tübingen, with strong affiliation to the German Center for Neurodegenerative Diseases (DZNE). His work centers on translational research for monogenetic neurological disorders, maintaining specialized outpatient clinics for rare disease cohorts while bridging clinical observations with laboratory investigations.

His research program integrates whole genome sequencing for genetic diagnosis with biomarker development using biobanked patient samples (DNA, RNA, serum, urine, CSF, fibroblasts, PBMCs). The group pioneers induced pluripotent stem cell (iPSC) technology, differentiating patient-derived neurons to model cerebellar ataxias and hereditary spastic paraplegias, enabling mechanistic studies of pathogenesis and therapeutic screening in genetically identical human neuronal systems.

A landmark achievement demonstrated 27-hydroxy-cholesterol (27-OHC) as a pathogenic biomarker in SPG5, correlating with disease severity and neurotoxicity in iPSC-derived neurons. This enabled a highly efficient investigator-initiated trial showing atorvastatin reduces 27-OHC levels by 30% in patients, exemplifying biomarker-driven trial design for ultra-rare diseases. Current work focuses on AAV-mediated gene therapy to further suppress 27-OHC production.

The research infrastructure includes specialized clinical assessment facilities, a comprehensive biobank, and stem cell laboratories for iPSC generation and neuronal differentiation. The group maintains active collaborations between clinical neurology and basic science to accelerate therapeutic development for inherited neurological disorders.