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Identification and validation of novel therapies for Charcot Marie Tooth Disease Type 2A

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  • Full or part time
    Dr Andy Grierson
    Dr I Barbaric
  • Application Deadline
    No more applications being accepted
  • Competition Funded PhD Project (European/UK Students Only)
    Competition Funded PhD Project (European/UK Students Only)

Project Description

An opportunity exists for an interdisciplinary PhD studentship in the Sheffield Neuroscience Institute, working in the laboratories of Dr Andy Grierson (SITraN, Department of Neuroscience) and Dr Ivana Barbaric (Centre for Stem Cell Biology, Department of Biomedical Science).

The aim of this project is to investigate novel therapeutic approaches in CMT2A using in vivo zebrafish models and in vitro human motor neurone models. Charcot-Marie-Tooth disease (CMT) is a group of inherited progressive conditions causing motor and sensory neuropathies, resulting in distal muscle wasting, mobility issues and pain. CMT is the most common hereditary condition affecting the nervous system, with an incidence 1 in 2500 worldwide, but there are currently no effective treatments. Axonal CMT (Type 2, or CMT2) constitutes the majority of non-demyelinating forms of CMT. CMT2A is by far the most common type of axonal CMT, and also the most severe. Patients have childhood onset, are wheelchair bound in their 20s and often have optic atrophy and hearing loss. CMT2A is caused by dominant and recessively inherited mutations in the mitofusin 2 (MFN2) gene.

You will investigate the mechanisms related to microtubule acetylation in zebrafish and human motor neuron models of CMT2A. Based on these investigations you will test the hypothesis that modulation of microtubule acetylation may be a promising therapeutic approach. You will also investigate alterations in gene expression across in vitro and in vivo mfn2 disease models to identify critical pathways in CMT2A that are potential new targets for therapeutic intervention.

The project will involve protein biochemistry, human pluripotent stem cell culture and differentiation, live imaging of axonal transport, and phenotypic analysis of zebrafish MFN2 mutants.

Funding Notes

RCUK equivalent home stipend rate per annum for 3.5 years
Home tuition fees for 3.5 years*
University of Sheffield funded studentships are supported with £6500 for consumables over the course of the award
*Overseas students may apply but need to fund the difference in tuition fees between the home and overseas rate.
A first or upper second class honours degree in a biological sciences subject or related discipline, or a merit or distinction in a suitable MSc. Experience working in a research laboratory is desirable.

You should be applying to start on a full-time or part-time PhD in October 2020.



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