Cheryl Shoubridge

Associate Professor Cheryl Shoubridge

Adelaide Medical School

Faculty of Health and Medical Sciences


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

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  • Appointments

    Date Position Institution name
    2014 Research Leader, Robinsons Research Institute University of Adelaide
    2013 Associate Professor, School of Paediatrics and Reproductive Health University of Adelaide
    2013 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 

                                   

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  • Committee Memberships

    Date Role Committee Institution Country
    2016 - ongoing Member GRP – Neurosciences for the NHMRC project grant funding round
    2015 - ongoing Chair Programming committee, Human Genetics Society of Australasia
    2015 - ongoing Chair HGSA Adelaide Symposia on Advances in Genomic Medicine – Excitement vs Reality
    2015 - ongoing Member Scientific Programming committee, HGSA Conference (Perth)
    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 - ongoing Council Human Genetics Society of Australasia
    2012 - ongoing Chair HGSA Adelaide Symposia on Neurogenetics
    2012 - ongoing Member Scientific Programming committee, HGSA Conference (Queenstown,NZ)
    2012 - ongoing President SA branch of the Human Genetics Society of Australasia
    2012 - 2014 Member Royal Adelaide Hospital Clinical and Scientific Fellowship committee
    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
  • Phone: 83132355
  • Email: cheryl.shoubridge@adelaide.edu.au
  • Campus: North Terrace
  • Building: Adelaide Health and Medical Sciences, floor 8
  • Room: WS8067.01
  • Org Unit: Paediatrics and Reproductive Health

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