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Inhaltsbereich


Sophie Imhof, MS.c

Department(s): Department of Neurology (Department of Neurology)
Position: PHD Student
Location: Währinger Gürtel 18-20
E-Mail:


Principle Investigator(s):

  • Cetin, Hakan


Abstract:

I am working on the motor neuron disease Amyotrophic Lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterised by the predominant loss of upper and lower motor neurons, associated with rapidly progressive muscle weakness leading to death within 2-3 years after disease onset. My work focuses on the familial form of ALS with underlying C9ORF72 hexanucleotide repeat expansion mutation and how repeat proteins, translated from this mutation, result in cell toxicity. For this we will assess changes on a genetic, transcriptional and proteasomal level. By investigating this mechanism, we hope to pave the path for novel ALS therapies.


Techniques:

This project includes different novel and innovative elements designed to understand better the genetic and biological background underlying C9-ALS, which together with the evaluation of potential rescue mechanisms has a strong transformative potential for the identification of novel therapeutic strategies. To test my hypotheses I will base my research on two models. Firstly, I will be working on human post mortem tissue from ALS patients, which guarantees a disease relevant context for my investigation. Secondly, through a collaboration with Sheffield University, I have the chance to use NSC34 cells with inducible repeat expansion to study molecular pathways in more detail. We are using different sequencing techniques, combined with molecular experiments to shine more light into the underlying basis of C9ORF72 toxicity.

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