Identification of genetic variation and transcriptional perturbations implicated in Parkinson’s disease

Anastasia Illarionova

Anastasia Illarionova, DZNE Tübingen, Germany


In this study, we systematically characterized and annotated the candidate SVs involved in the manifestation of Parkinson's Disease (PD) using 10 dopaminergic neuronal cell cultures derived from healthy controls and PD patients iPSC lines. Oxford Nanopore DNA sequencing data was used for SV detection and SNP/indel phasing. Oxford Nanopore cDNA-seq data was used for allele-specific expression and alternative splicing analysis. Resolved perturbations in the transcriptome were assessed for the presence of SVs in the coding and non-coding regions. Our results will expand the knowledge about PD risk variants and shed light on the underlying mechanism of pathogenesis, and could suggest novel therapeutic targets for PD.


Anastasia Illarionova is pursuing her Ph.D in the German Center of Neurodegenerative Diseases in Tübingen under the supervision of Prof. Peter Heutink. She is interested in the identification of genetic risk factors for neurological disorders, with a focus on detection and annotation of deleterious coding and non-coding structural variants causal for Parkinson’s disease. She received her Master’s degree from the Graduate Training Center of Neuroscience, University of Tübingen, where she worked on the investigation of protein-protein networks for a disease module detection.