Content: This course provides a theoretical and practical insight in genetics, pathomechanism, diagnostics and treatment development of selected inherited neuromuscular disorders. Topics include: pedigree analysis, mutational analysis (theoretical and practical), muscle histology, cellular mechanism and assays as well as therapeutical approaches. Methods include: SNP genotyping, immunohistochemistry, biochemical assays, real-time PCR, microscopy, cellular uptake assays, and others. Learning outcome: Students will get an overview of the genetic background and functional consequences of selected neuromuscular disorders and learn how to approach these from identification and verification of mutations to the development of therapeutic strategies. 2 ECTS; 1 week full-day block course; |
- Trainer/in: Alexander Kaiser
- Trainer/in: Peter Meinke