Neurodegenerative Disease Research (Edbauer/Zhou 1) 

Department / Institute
Biochemistry Department / German Center for Neurodegenerative Diseases (DZNE)
Subject area
Neurodegenerative Disease Research
Name of supervisor
Prof. Dr. Dieter Edbauer / Dr. Qihui Zhou
Number of open positions
1 or 2
Project title
Molecular pathomechanisms of (G4C2)n repeat expansion of C9orf72 ALS/FTD
Language requirements
Fluency in English
Academic requirements
4-year Bachelor's plus relevant Master's degree; excellent technical skills, an enthusiasm for using and developing new techniques, and the interpersonal skills to work within a diverse team of scientists; experience with either mouse experiments or molecular/cell biology studies is required; experience with iPSC models and bioinformatic skills to analyze next-generation sequencing data are an advantage
Study model
Full doctoral study model: 36 or 48 months
Prof. Dr. Dieter Edbauer:
Dr. Qihui Zhou:

Project description

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive fatal neurodegenerative diseases with overlapping clinical symptoms and neuropathological findings. Protein aggregates are an important neuropathological feature in both familiar and sporadic ALS/FTD cases. We have focused on the C9orf72 mutation and other genetic forms of ALS/FTD to understand disease pathomechanism (Mori et al, Science 2013, May Acta Neuropath et al, 2014, Zhou et al, EMBO Mol Med 2017, Khosravi, EMBO Journal 2020) and develop mouse models for mechanistic and therapeutic studies (Schludi et al, Acta Neuropath 2017; Zhou& Mareljic et al, EMBO Mol Med 2020; LaClair& Zhou et al, Acta Neuropath 2020). Lack of effect in two clinical trials using antisense oligonucleotides prompts our search for new pathomechanism. This project will focus on genomic instability, haploinsufficiency and mechanistic links of the C9orf72 mutation to TDP-43 pathology. We will use AAV, CRISPR, NGS-based methods and small molecule approaches in mouse models and iPSC-based models.

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