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A 3-year PhD Studentship funded by the Norrie Disease Foundation is available in the ICH Developmental Biology & Cancer Research and Teaching Department, Great Ormond Street UCL Institute of Child Health. The studentship will commence in October 2021 under the supervision of Professor Jane Sowden.Studentship DescriptionCurrently there is no treatment for Norrie disease or FEVR. We will test the hypothesis that gene therapy to restore NDP function or small molecules that activate the Wnt pathway and bypass the membrane receptor complex might mitigate against the effect of Ndp mutation in the Norrie mouse.Over its duration, this studentship will provide a scientific training programme encompassing many laboratory techniques necessary for investigating the biological basis of human genetic disease and development of therapy. It will provide training in the understanding of disease mechanisms, the use of the mouse as an animal model of human disease, and therapeutic approaches to genetic disease.The study will focus on the potential of recombinant adeno associated viral (rAAV) vectors, known to be a useful for delivery to post mitotic cells and that readily accommodate the small NDP cDNA. Gene therapy or drugs delivered to sites of pathology (e.g. by in vivo injection of AAV) will be evaluated to establish whether this can rescue or delay the progression of sensory loss and the tissue pathology. Standard methods of histopathology, RT PCR, immunohistochemistry, confocal imaging will be used to analyse how different cells/tissues are affected and the response to treatment; these methods will be used to measure improvements to impaired vasculature structure and the function and survival of sensory neurons after treatment. Project DescriptionThis project is a collaborative study with other investigators working on hearing research and is suitable for an applicant with an interest in developing treatments for hearing loss.The student will receive a starting stipend of £17,609 per annum (including London weighting) as well as the cost of tuition fees based on UK fee status.Person SpecificationApplicants should have, or expect to receive an upper second-class Bachelor’s degree and a Master’s degree (or equivalent work experience) in a relevant discipline or an overseas qualification of an equivalent standard. EligibilityThis studentship covers the cost of tuition fees based on the UK (Home) rate. Non-UK students can apply but will have to personally fund the difference between the UK (Home) rate and the overseas rate where they are not eligible for UK fee status.NB: You will be asked about your likely fee status at the interview so we would advise you to contact the UCL Graduate Admissions Office for advice should you be unsure whether or not you meet the eligibility criteria for Home fee status. Further information on Brexit and the definitions for fee status assessment can be found on the UCL website and also the UKCISA website (Higher Education: Definitions for fee status assessment).To apply, please send a current CV including the contact details of two professional referees as well as a cover letter outlining your interest in this research area to [email protected] Enquiries regarding the post can be made to Prof Jane Sowden ([email protected], cc [email protected]).Contact nameValerie KaralukaContact details UCL Taking Action for Equality Closing Date30 Sep 2021Latest time for the submission of applications23:59Interview dateTBCStudentship Start DateOctober 2021

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