BAVARIAN RESEARCH NETWORK INDUCED PLURIPOTENT STEM CELLS
Genetics of the Parkinson's Disease and genetic stability of human induced pluripotent stem cells and derived cells
Field of work:Genetic and epigenetic characterization of the cells
Parkinson’s-Syndrome can be caused by rare single gene defects (monogenic or Mendelian forms) or occur as a complex trait with an underlying interaction of genetic and environmental factors. This is often referred to as idiopatic Parkinson’s syndrome (IPS). After the comprehensive analysis of known monogenic forms we will now investigate genetic risk variants at the single nucleotide level thereby achieving in depth genetic characterisation of Parkinson’s patients in the project. We will also investigate cellular material derived from patients and control individuals for genomic copy number variants as well variants of the entire coding sequence with next generation sequencing. A further focus will be the analysis of genetic stability of reprogrammed cells used throughout the project and obtained with various reprogramming strategies, both those using vectors integrating in the genome as well as by non-integrating approaches.
A comprehensive genetic characterisation should ensure the validity of the results obtained in the consortium and exclude possible experimental artefacts of the reprogramming process of IPSCs allowing an unbiased interpretation of the cellular phenotypes observed in the different subprojects.
- Friedrich Alexander University Erlangen-Nuremberg
- Technische Universtität München (TUM)
- University of Regensburg