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.
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
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
Research project start:Semester 1 or 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
Research project start: Semester 1 and 2
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 — — —
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
Date Title Institution name Country 2016 Animal Ethics and Welfare Induction update University of Adelaide Australia
Year Citation 2016 Zerem, A., Haginoya, K., Lev, D., Blumkin, L., Kivity, S., Linder, I., . . . Lerman-Sagie, T. (2016). THE MOLECULAR AND PHENOTYPIC SPECTRUM OF IQSEC2 RELATED EPILEPSY. In EPILEPSIA Vol. 57 (pp. 21-22). WILEY. 2015 Shoubridge, C., Hinze, S., Lie, S., & Jolly, L. (2015). Functional deficit of IQSEC2, a known intellectual disability gene, disrupts normal dendritic spine morphogenesis. In JOURNAL OF NEUROCHEMISTRY Vol. 134 (pp. 308-309). Cairns, AUSTRALIA: WILEY-BLACKWELL. 2009 Shoubridge, C., Tan, M., Fullston, T., McGillivray, G., Mancini, G., & Gecz, J. (2009). Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13. In Proceedings of 59th Annual meeting of the American Society of Human Genetics (pp. 0 pages). USA: American Society of Human Genetics. 2008 Tarpey, P., Dibbens, L., Hynes, K., Smith, R., Edkins, S., Teague, J., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. In JOURNAL OF MEDICAL GENETICS Vol. 45 (pp. S17). Univ York, York, ENGLAND: BMJ PUBLISHING GROUP. 1998 Steeb, C. B., Shoubridge, C. A., Lamb, J., Howarth, G. S., & Read, L. C. (1998). Role of insulin-like growth factor-I in gastrointestinal growth and repair. In K. Takano, N. Hizuka, & S. I. Takahashi (Eds.), MOLECULAR MECHANISMS TO REGULATE THE ACTIVITIES OF INSULIN-LIKE GROWTH FACTORS Vol. 1151 (pp. 331-339). TOKYO, JAPAN: ELSEVIER SCIENCE BV.
Year Citation 2019 Palmer, E., Sachdev, R., Macintosh, R., Kandula, T., Minoche, A., Puttick, C., . . . Kirk, E. (2019). How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Gothenburg, SWEDEN: NATURE PUBLISHING GROUP. 2018 Padula, A., Poeta, L., Shoubridge, C., Valentino, M., Attianese, B., vanBokhoven, H., . . . Miano, M. (2018). Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model". Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Copenhagen, DENMARK: NATURE PUBLISHING GROUP.
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 2017 Co-Supervisor bHLH PAS and HD protein interactions in neuronal development and pathology Doctor of Philosophy Doctorate Full Time Mr Joseph James Rossi 2017 Principal Supervisor Analysis of treatment efficacy and molecular outcomes in mouse models of congenital epilepsy and intellectual disability Doctor of Philosophy Doctorate Full Time Miss Karagh Eleni Loring
Past Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 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
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 —
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 —
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