Cheryl Shoubridge

Associate Professor Cheryl Shoubridge

Senior Research Fellow (D)

School of Biomedicine

Faculty of Health and Medical Sciences

Eligible to supervise Masters and PhD - email supervisor to discuss availability.


Intellectual Disability Research Laboratory

Identification of genes and understanding of molecular mechanisms leading to intellectual disabilities, autisms and some epilepsies represents a challenge of significant medical importance. Our research seeks to further our understanding of human brain function through the identification of genes and characterisation of their naturally occurring mutations implicated in various disorders of the brain.

Led by A/Prof Cheryl Shoubridge, the Intellectual Disability Research laboratory focuses on identifying the molecular mechanisms and functional impact of mutations in genes causing X-linked intellectual disability (XLID). This research team is currently funded by two NHMRC project grants and a ARC Future Fellowship.

Research Interests

The key areas of research include:
  • Utilize 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.
  • Animal models to investigate functional impact of the two most frequent expanded polyalanine tract mutations in the ARX gene.
  • 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. 
  • Investigate how phosphorylation may regulate the function of the ARX homeodomain transcription factor.
  • Screen ARX and IQSEC2 in various patient and control groups.

 

Available research Projects for Honours and HDRs

Project 1

Title: Towards treating IQSEC2 associated intellectual disability, autism and epilepsy

Description:Drugs and treatments targeting the molecular pathophysiology induced by a genetic cause will be validated using primary hippocampal neuronal cultures in conjunction with a CRISPR generated KO mouse modelling human mutations which recapitulate the ID, social behavioral abnormalities and epilepsy seen in human patients. We focus on the geneIQSEC2which has been associated these disorders in male and increasingly in female children.

Projects available for: Honours and HDR

Location:AHMS

Research project start:Semester 1 or 2

 

Project 2

Title:Mechanisms of 17B-estradiol treatment improving intellectual disability and seizures

Description:The current project seeks to characterize and understand the drivers underpinning phenotypic improvements following a postnatal treatment strategy in a genetic mouse model of intellectual disability and seizures. This project focuses on the two most frequent expanded polyalanine tract mutations in the ARX gene. The key approaches will investigate animal models including seizure monitoring and behavioral analysis, through to RNASeq to examine transcriptome wide changes and associated changes to interneuron populations in the developing brain.

Projects available for: Honours and HDR

Location: AHMS

Research project start: Semester 1 and 2

  • Appointments

    Date Position Institution name
    2021 - ongoing Course Coordinator - Biology of childhood and adolescent health (3rd yr) University of Adelaide
    2021 - ongoing Curriculum Development for Bachelor of Medicine (in development) University of Adelaide
    2019 - 2020 Program Coordinator - Masters in Precision Medicine (in development) University of Adelaide
    2014 - ongoing Research Leader, Robinsons Research Institute University of Adelaide
    2013 - ongoing Associate Professor, School of Paediatrics and Reproductive Health University of Adelaide
    2013 - ongoing Head, Intellectual Disability Research University of Adelaide
    2011 - 2012 MS McLeod Research Fellowship SA Pathology
    2010 - 2014 Honours Coordinator (Paediatrics) University of Adelaide
    2007 - 2010 NHMRC Peter Doherty Biomedical Training Fellow SA Pathology
    2002 - 2007 Grant Funded Scientist, neurogenetics SA Patholody
    1998 - 2009 Lecturer in Medical Sciences Adelaide Training College of Complementary Medicine
    1993 - 1997 Researcher Women's and Children's Hospital, Child Health Research Institute
  • Awards and Achievements

    Date Type Title Institution Name Country Amount
    2018 Award Service Excellence Award Human Genetics Society of Australasia Australia -
    2013 Fellowship Australian Research Council Future Fellowship - - -
    2012 Award President of SA branch of the Human Genetics Society of Australasia - - -
    2011 Fellowship MS McLeod Research Fellowship - - -
    2009 Award Human Genetics Society of Australasia international travel award - - -
    2007 Fellowship NHMRC Peter Doherty Biomedical Training Fellowship - - -
    1998 Award Australian Postgraduate Award - - -
  • Education

    Date Institution name Country Title
    2002 Flinders University Australia PhD (Physiology)
    1998 The University of Adelaide Australia Bachelor of Science- First Class Honours (Physiology)
    1992 Flinders University Australia Bachelor of Science
  • Certifications

    Date Title Institution name Country
    2016 Animal Ethics and Welfare Induction update University of Adelaide Australia
  • Research Interests

Competitive Research Grants and other funding

I have received over $4.4 million in competitive funding since 2007, with over $3.8 million as Chief Investigator and fellowship support.                    

2007-2010  NHMRC Peter Doherty Biomedical Training Fellowship    $235,000
2007   Channel 7 Children’s Research Foundation Grant (ECR)    $  15,000 
2011-2013                                          NHMRC project grant App1002732 (CIA)     $140,000
2011-2013      NHMRC project grant App1006586 (CIA)         $  50,000 
2011-2012     MS McLeod Research Fellowship     $235,000
2010      Women’s and Children’s Hospital Foundation Grant (CIA)       $433,786 
2007   Equipment Funding (Institutional)         $526,706
2013-2014                            Channel 7 Children’s Research Foundation Grant (CIA)   $  75,000 
2013-2016   Australian Research Council Future Fellowship       $787,989                         
2014 Women’s and Children’s Hospital Foundation Grant (AI)       $  75,000 
2014  Channel 7 Children’s Research Foundation Grant (CIA)  $  75,000 
2014-2016  NHMRC project grant App1059120 (CIC)          $534,021 
2014-2016 NHMRC project grant App1063025 (CIA)      $576,174 
2016  Channel 7 Children’s Research Foundation Grant (CIA)   $  65,000 
2016-2019   NHMRC project grant App1099538 (CIA)       $683,622 

                                   

  • Current Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2022 Principal Supervisor Situating place-based social care interventions in the Australian healthcare system: lessons and limitations Doctor of Philosophy Doctorate Full Time Miss Kate Emily Neadley
  • Past Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2017 - 2021 Principal Supervisor Analysis of Treatment Efficacy and Molecular and Cellular Outcomes in Mouse Models of Congenital Epilepsy and Intellectual Disability Doctor of Philosophy Doctorate Full Time Miss Karagh Eleni Loring
    2013 - 2017 Principal Supervisor Investigating the Pathogenic Mechanism of Expanded Polyalanine Tract Mutations in the ARX Homeobox Transcription Factor Causing Intellectual Disability Doctor of Philosophy Doctorate Full Time Tessa Renee Mattiske
  • Committee Memberships

    Date Role Committee Institution Country
    2016 - ongoing Member GRP – Neurosciences for the NHMRC project grant funding round - -
    2015 - ongoing Member Scientific Programming committee, HGSA Conference (Perth) - -
    2015 - ongoing Chair Programming committee, Human Genetics Society of Australasia - -
    2015 - ongoing Chair HGSA Adelaide Symposia on Advances in Genomic Medicine – Excitement vs Reality - -
    2014 - ongoing Member Scientific Programming committee, HGSA Conference (Adelaide) - -
    2014 - ongoing Chair organising committee, HGSA Conference (Adelaide) - -
    2014 - ongoing Chair Australian Society of Medical Research conference (Adelaide) - -
    2013 - ongoing Member Organising committee, 16th Fragile X and Early-Onset Cognitive Disorders workshop - -
    2012 - 2014 Member Royal Adelaide Hospital Clinical and Scientific Fellowship committee - -
    2012 - ongoing Member Scientific Programming committee, HGSA Conference (Queenstown,NZ) - -
    2012 - ongoing President SA branch of the Human Genetics Society of Australasia - -
    2012 - ongoing Council Human Genetics Society of Australasia - -
    2012 - ongoing Chair HGSA Adelaide Symposia on Neurogenetics - -
    2010 - 2014 Member Research Education Committee The University of Adelaide -
    2010 - 2014 Member School Paediatrics and Reproductive Health Honours Program - -
    2010 - ongoing Chair HGSA Adelaide Symposia on Genomics – join the revolution - -
    2007 - 2012 Secretary SA Branch of the Human Genetics Society of Australasia - -
    2007 - ongoing Chair HGSA Adelaide Symposia on Animal Models and Human Biology - -
    2004 - 2009 Member Institutional Biosafety Committee Women's and Children's Hospital -
  • Memberships

    Date Role Membership Country
    2018 - ongoing Member F1000Prime Faculty United Kingdom
    2013 - ongoing - Australian Neuroscience Society -
    2008 - ongoing - Australian Society Biochemists and Molecular Biologists -
    2008 - ongoing - American Society of Human Genetics -
    2006 - ongoing - Australian Society of Medical Research -
    2002 - ongoing - Human Genetics Society of Australasia -
  • Position: Senior Research Fellow (D)
  • Phone: 83132355
  • Email: cheryl.shoubridge@adelaide.edu.au
  • Campus: North Terrace
  • Building: Adelaide Health and Medical Sciences, floor 8
  • Org Unit: Medical Sciences

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