Intellectual Disability Research Group

Our research seeks to further understand human brain function through the identification of genes and characterization of naturally occurring mutations implicated in various disorders of the brain.

Led by Associate Professor Cheryl Shoubridge, the Intellectual Disability Research Group focuses on identifying the molecular mechanisms and functional impact of mutations in genes causing X-linked intellectual disability (XLID).

    Expand
  • Members

    Research staff

    A/Prof Cheryl Shoubridge, PhD
    Head of Molecular Neurogenetics
    ARC Future Fellow
    Phone (08) 8161 8105
    Cheryl.shoubridge@adelaide.edu.au

    Dr Kristie Lee
    Postdoctoral Researcher
    kristie.lee@adelaide.edu.au

    Matilda Jackson
    Postdoctoral Researcher
    matilda.jackson@adelaide.edu.au

    Susan Hinze
    Research Officer
    susan.hinze@adelaide.edu.au

    Ching Moey
    Research Assistant
    ching.moey@adelaide.edu.au

    Megan Bleeze
    Research Assistant
    megan.bleeze@adelaide.edu.au

    Postgraduate students

    Tessa Mattiske
    tessa.mattiske@adelaide.edu.au
    The impact of expanded polyalanine tract mutations in ARX on the transcriptome during brain development

    May Tan
    may.tan@adelaide.edu.au
    The regulation of Aristaless-related homeobox function via phosphorylation

    Location

    Molecular Neurogenetics Laboratory
    2nd Floor, Bragg Building
    University of Adelaide
    South Australia 5006
    Australia

    Mailing address

    Molecular Neurogenetics Laboratory
    2nd Floor, Rm L2.50, Bragg Bldg
    University of Adelaide
    South Australia 5006
    Australia

  • Acknowledgements

    The Molecular Neurogenetics research group is funded by NHMRC Project Grants, ARC Future Fellowship and a Channel 7 Children's Research grant.

    We have a range of national and international collaborators who contribute significantly to our research projects and include:

    • Prof Jozef Gecz - Neurogenetics, Australia
    • Dr Michael Field - Hunter Genetics, GOLD, Australia
    • Prof Robert Harvey - School of Pharmacy, UK
    • Dr Anna Hackett - Hunter Genetics, GOLD, Australia
    • Prof Charles Schwartz - JC Self Research Institute, USA
    • Prof Kunio Kitamura - National Institute of Neuroscience, Toyko, Japan
    • Dr Gaelle Friocourt - INSERM, France
    • Dr Maria Giuseppina Miano - Institute of Genetics

Our research

  • Utilises primary neuronal cell culture models to investigate the functional impact of patient mutations in genes involved in X-linked intellectual disability, in particular the ARX and IQSEC2 genes
  • Utilises animal models to investigate functional impact of the two most frequent expanded polyalanine tract mutations in the ARX gene
  • Seeks to establish the molecular mechanisms of disease associated with a range of expanded polyalanine tract mutations in ARX to begin to understand how these mutations underpin the intellectual disability with and without a broad spectrum of associated clinical symptoms in affected patients, including epilepsy
  • Utilises transcriptome wide analysis of functional impact of frequent polyalanine tract mutations in ARX
  • Investigates how phosphorylation may regulate the function of the ARX homeodomain transcription factor
  • Screens ARX and IQSEC2 in various patient and control groups

Main projects

  • Investigate the pathogenic role of expanded polyalanine tract mutations in ARX (NHMRC Project grant, 2014-2015 / ARC Future Fellowship / WCH Foundation grant 2014
  • Investigate the role of IQSEC2 in non-syndromic Intellectual disability (NHMRC Project grant, 2011-2013 / Channel 7 Research foundation 2014