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SOX10mutants

Investigating genotype-phenotype correlations in SOX10 neurocristopathies

Total Cost €

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EC-Contrib. €

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Partnership

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 SOX10mutants project word cloud

Explore the words cloud of the SOX10mutants project. It provides you a very rough idea of what is the project "SOX10mutants" about.

people    syndrome    fellowship    investigations    hearing    defects    tool    network    correlations    significantly    melanocytes    types    mutations    zebrafish    neural    natal    pigmentation    expanding    clear    screening    disciplinary    skill    waardenburg    gene    deriving    sox10    genetic    suffer    training    crest    prof    fellow    critical    sensorineural    phenotype    counselling    expertise    genotype    ranging    dr    syndromes    ge    data    understand    giving    incidence    sox10mutants    genes    bath    molecular    contributes    neurocristopathies    cell    independent    failed    governed    transcription    clinical    nature    symptoms    42    assay    university    examples    uk    relationship    career    aganglionosis    event    vitro    patients    disease    group    academic    proof    reported    france    inserm    developmental    vivo    ws    nad    multiple    diverse    hirshsprung    ballim    rescue    robert    deeya    pax3    intestinal    bondurand    tools    genetics    context    proposes    egrave    neurons    basis    kelsh    glia   

Project "SOX10mutants" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITY OF BATH 

Organization address
address: CLAVERTON DOWN
city: BATH
postcode: BA2 7AY
website: http://www.bath.ac.uk/

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website https://researchportal.bath.ac.uk/en/projects/marie-curie-if-deeya-ballim-sox10-mutants
 Total cost 195˙454 €
 EC max contribution 195˙454 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2014
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2015
 Duration (year-month-day) from 2015-07-01   to  2018-02-17

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITY OF BATH UK (BATH) coordinator 195˙454.00

Map

 Project objective

Neural crest formation is a critical event in development, giving rise multiple cell types including melanocytes, neurons and glia. This complex process is governed by a network of transcription factors, such as PAX3 and SOX10 and mutations in these genes have been associated with developmental syndromes. Waardenburg syndrome (WS) and Hirshsprung disease are examples of these neurocristopathies and patients suffer symptoms ranging from sensorineural hearing loss and pigmentation defects to intestinal aganglionosis. Over 50 case studies of WS have been reported in Europe and the incidence is estimated to be 1 in 42 000 people. Recent investigations into the molecular basis of WS have failed to identify genotype-phenotype correlations between gene mutations and symptoms, likely due to the in vitro nature of these studies. It has therefore become clear that new tools are needed to better understand the genotype-phenotype relationship in neurocristopathies in an in vivo context. The SOX10mutants project proposes to address this using a novel zebrafish rescue assay to investigate the effects of SOX10 mutations on the development of cell types deriving from the neural crest. Results from this study would impact significantly on genetic counselling and pre-natal screening of WS patients and provide proof-of-concept data for the use of zebrafish as a tool for studying neurocristopathies. This project is the basis of a multi-disciplinary collaboration between Prof. Robert Kelsh (University of Bath, UK) and Dr Nadège Bondurand (INSERM, France), bringing together zebrafish expertise with WS clinical genetics experience. The research fellow, Dr Deeya Ballim, contributes transcription factor knowledge and a diverse skill set. Deeya aims to establish an independent research group and this fellowship will be a key step in her career development, by expanding her research and academic training, supported by Prof. Kelsh and the University of Bath.

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