Methods

Established CRISPR/CAS methods are available to model rare, genetically caused neurodegenerative diseases in established cell lines. This approach has the advantage of comparison to isogenic controls of the same cell type to identify differences as an expression of cellular pathology. 

Established methods allow a detailed characterisation of the pathological cellular phenotype. These include microscopy and high-resolution microscopy methods to characterise changes in organelles or specific informative targets (e.g. proteins, complexes, interaction partners). In addition, methods are available for analysing intracellular pathways and biochemical changes. In addition to genome-edited cell models, the research group has expertise in the generation and investigation of primary cell lines from patients (fibroblasts, iPSC).

Intracellular pathomechanisms are identified using OMICS methods, some of which are available specifically for individual organelles. For example, methods for chromatographic enrichment of lysosomes and subsequent analysis of the lysobolome have been established.

The development of microscopic and biochemical high-throughput screening procedures in primary cell lines or cell models is used for untargeted drug and compound screening to establish therapeutic procedures. Furthermore, high-throughput methods for the functional characterisation of pathogenic variants in genetic diseases are established and applied.