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SOX10mutants

Investigating genotype-phenotype correlations in SOX10 neurocristopathies

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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.

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

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.
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 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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