Center for Neuropathology

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Functional systems genetics of neurodegeneration (Head: Dr. med. Felix StrĂ¼bing)

The research focus „functional systems genetics of neurodegeneration” aims to identify the molecular mechanisms that lead to the degeneration of cells in the central nervous system. Neurodegenerative diseases such as Alzheimer’s disease (AD) or Parkinson’s disease show a complex etiology: Numerous genetic risk factors have been described, which only when occurring together may lead to the disease. Thus, we need to understand the related molecular processes in a systemic way. While many of these risk factors have been identified, functional understanding of how they might act on the cell remains missing. This can be partly attributed to a lack of suitable scientific methods.
We strive to solve this problem by developing new and creative methods in a translational and interdisciplinary setting. By leveraging techniques from the fields of molecular and synthetic biology, high-throughput sequencing as well as bioinformatics, we seek a better fundamental understanding of the pathogenesis of neurodegenerative disorders, so that new diagnostic and therapeutic tools may be identified.
The focus of our current project lies on the functional, cell type-specific analysis of non-coding genomic elements known to influence AD susceptibility. Recent genome-wide association studies (GWAS) demonstrated that the vast majority (>90%) of associated risk genes do not overlap a protein-coding gene, but are rather situated in so-called non-coding areas of the genome. Even ten years ago, these regions were still dismissed as “Junk DNA” – yet we now know that they have a regulatory effect on the expression of genes and proteins. How exactly their presence or absence may be involved in the final development of AD remains to be understood. By using in vivo mouse models, we are trying to functionally interrogate their effects in a cell type-specific way.

Funding: European Union Marie-Curie Actions (H2020-MSCA-IF-2017: NOJUNKDNA; 792832)