معرفی
Prof. Dr. Ludger Schöls serves as a Group Leader within the Department of Neurology at the University of Tübingen, Germany, with his laboratory hosted at the German Center for Neurodegenerative Diseases (DZNE) in Tübingen. His work bridges clinical neurology and molecular research to address rare neurogenetic disorders through specialized outpatient clinics and translational pipelines.
His research program centers on neurogenetic diseases, particularly cerebellar ataxias and hereditary spastic paraplegia (HSP), employing exome and genome sequencing for genetic diagnosis, longitudinal clinical studies to quantify disease progression, and biomarker development from diverse patient biospecimens. The group pioneered 27-hydroxycholesterol as a biomarker for SPG5, demonstrating its correlation with clinical severity and neurotoxicity in iPSC-derived neurons, which enabled a successful atorvastatin clinical trial in genetically stratified patients.
The Schöls lab integrates clinical and laboratory approaches through a comprehensive biobank and induced pluripotent stem cell (iPSC) technology. Patient skin biopsies are reprogrammed into disease-specific neurons to model early pathogenesis and screen therapeutic compounds, creating a direct bench-to-bedside pathway. Current work explores AAV-mediated gene therapy for sustained biomarker reduction, building on translational successes that overcome challenges of rare disease research through genetic precision and biomarker validation.
Ludger Schöls در سایتهای دیگر
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