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Investigating genotype-phenotype correlations in SOX10 neurocristopathies

Total Cost €


EC-Contrib. €






 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.

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

Project "SOX10mutants" data sheet

The following table provides information about the project.


Organization address
city: BATH
postcode: BA2 7AY

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
 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


Take a look of project's partnership.

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


 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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The information about "SOX10MUTANTS" are provided by the European Opendata Portal: CORDIS opendata.

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