German Center for Neurodegenerative Diseases (DZNE)
Genome Biology of Neurodegenerative Diseases
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 pathogenic coding and non-coding structural variants causal for sporadic cases of 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 interaction and gene co-expression networks for a disease module detection.

Presenter of 1 Presentation

IDENTIFICATION OF GENETIC VARIATION AND TRANSCRIPTIONAL PERTURBATIONS IMPLICATED IN PARKINSON’S DISEASE

Session Type
SYMPOSIUM
Date
Sat, 19.03.2022
Session Time
05:15 PM - 06:45 PM
Room
ONSITE: 133-134
Lecture Time
05:15 PM - 05:30 PM

Abstract

Aims

This study aims to systematically characterize and functionally annotate the candidate structural variants (SVs) causal for Parkinson's disease (PD) using dopaminergic neuronal (DN) cell cultures derived from healthy controls and idiopathic (iPD) patients iPSC lines.

Methods

For this purpose, we generated long-read DNA and RNA sequencing data from 10 DN cell lines with ONT-PromethION. Long-read DNA sequencing data was used for SV detection. Long-read RNA-seq data was used for isoform expression and splicing analysis. Resolved perturbations in the transcriptome were associated to the presence of SVs in the coding and non-coding regions.

Results

We developed a conceptual approach for SV prioritization on genomic and transcriptomic levels and applied it to obtain a list of candidate genetic risk factors for the iPD samples in our cohort.

Conclusions

Our results expand the knowledge about the PD risk variants and their biological functions as well as shed light on the underlying mechanism of pathogenesis, which could suggest novel therapeutic targets for PD.

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