Cheryl Shoubridge

Research Interests

Neuroscience, Behaviour and Brain Health Child and Adolescent Health

Associate Professor Cheryl Shoubridge

Senior Research Fellow (D)

School of Pharmacy and Biomedical Science

College of Health

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

Intellectual Disability Research LaboratoryIdentification 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).

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 disease causing variants to understand the impact on brain development leading to intellectual disability and the broad spectrum of associated clinical symptoms in affected patients, including epilepsy.  

 

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

Date Position Institution name
2022 - ongoing Post Graduate Coordinator University of Adelaide
2021 - ongoing Course Coordinator - Biology of childhood and adolescent health (3rd yr) 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

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
2025 Gonzalez, M. B., Andreas, E., Winstanley, Y. E., Connaughton, H. S., Loring, K. E., Shoubridge, C., & Robker, R. L. (2025). Maternal aging reduces female fecundity and alters offspring phenotype in a sex-specific manner. Reproduction Fertility and Development, 37(5), RD24164-1-RD24164-11.
DOI Scopus1 WoS1 Europe PMC1
2025 Neadley, K. E., Shoubridge, C., Lynch, J. W., Boyd, M. A., & Poirier, B. F. (2025). Hospital-Based Interventions Addressing Social Needs: A Systematic Narrative Review. American Journal of Preventive Medicine, 69(1), 13 pages.
DOI Scopus2 WoS2 Europe PMC3
2025 Neadley, K. E., Downes, M., Chan, L., Poirier, B., Lynch, J., Boyd, M., & Shoubridge, C. (2025). A Health Navigator intervention to address the unmet social needs of caregivers of hospitalised children in South Australia: protocol for a mixed-methods pilot study.. Pilot Feasibility Stud, 11(1), 119.
DOI
2024 Gonzalez, M. B., Campugan, C. A., Connaughton, H. S., Andreas, E., Winstanley, Y. E., Williams, E. J., . . . Robker, R. L. (2024). BGP-15 mitigates adverse impacts of aging on sperm quality, fertility, and offspring health in male mice. Reproduction, 168(3), e240105 -1-e240105-13.
DOI Scopus6 WoS6 Europe PMC4
2024 Neadley, K., Smith, A., Martin, S., Boyd, M., Hocking, C., & Shoubridge, C. (2024). Health Navigator intervention to address the unmet social needs of populations living with cancer attending outpatient treatment at a major metropolitan hospital in Australia: protocol for a mixed-methods feasibility trial. BMJ Open, 14(11), e080403-1-e080403-6.
DOI Scopus1 WoS1 Europe PMC1
2023 Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G., . . . Hakonarson, H. (2023). Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.. The Journal of clinical investigation, 134(1), e171235-1-e171235-17.
DOI Scopus25 WoS25 Europe PMC27
2022 Shoubridge, C., Dudding-Byth, T., Pasquier, L., Goel, H., Yap, P., & McConnell, V. (2022). IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.. Clinical Genetics, 102(1), 72-77.
DOI Scopus5 WoS4 Europe PMC8
2021 Palmer, E. E., Sachdev, R., Macintosh, R., Genetic Counselling, G. D., Melo, U. S., Mundlos, S., . . . Kirk, E. (2021). Diagnostic yield of whole genome sequencing after non-diagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies. Neurology, 96(13), e1770-e1782.
DOI Scopus78 WoS72 Europe PMC75
2021 Loring, K. E., Mattiske, T., Lee, K., Zysk, A., Jackson, M. R., Noebels, J. L., & Shoubridge, C. (2021). Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX). Neurobiology of Disease, 153, 1-13.
DOI Scopus9 WoS9 Europe PMC11
2021 Field, M. J., Sharma, R., Hackett, A., Kayumi, S., Shoubridge, C., Ewans, L. J., . . . Corbett, M. A. (2021). Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human Mutation, 42(7), 835-847.
DOI Scopus1 WoS1 Europe PMC1
2021 Rodgers, J., Calvert, S., Shoubridge, C., & McGaughran, J. (2021). A novel ARX loss of function variant in female monozygotic twins is associated with chorea.. Eur J Med Genet, 64(11), 1-5.
DOI Scopus5 WoS5 Europe PMC5
2020 Thai, H., Gardner, A., Redpath, L., Mattiske, T., Dearsley, O., Shaw, M., . . . Shoubridge, C. (2020). Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Human Mutation, 41(8), 1407-1424.
DOI Scopus4 WoS2 Europe PMC4
2019 Poeta, L., Padula, A., Attianese, B., Valentino, M., Verrillo, L., Filosa, S., . . . Miano, M. G. (2019). Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.. Human molecular genetics, 28(24), 4089-4102.
DOI Scopus25 WoS26 Europe PMC25
2019 Shoubridge, C., Harvey, R. J., & Dudding-Byth, T. (2019). IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. Human Mutation, 40(1), 5-24.
DOI Scopus45 WoS42 Europe PMC37
2019 Shoubridge, C., Jackson, M., Grinton, B., Berkovic, S. F., Scheffer, I. E., Huskins, S., . . . Ware, T. (2019). Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. American Journal of Medical Genetics, Part A, 179(8), 1483-1490.
DOI Scopus9 WoS9 Europe PMC8
2019 Jackson, M. R., Loring, K. E., Homan, C. C., Thai, H. N., Määttänen, L., Arvio, M., . . . Shoubridge, C. (2019). Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life Science Alliance, 2(4), e201900386-1-e201900386-18.
DOI Scopus19 WoS17 Europe PMC17
2018 Mattiske, T., Tan, M., Dearsley, O., Cloosterman, D., Hii, C., Gécz, J., & Shoubridge, C. (2018). Regulating transcriptional activity by phosphorylation: a new mechanism for the ARX homeodomain transcription factor. PLoS ONE, 13(11), 1-24.
DOI Scopus12 WoS11 Europe PMC9
2017 Buckberry, S., Bianco-Miotto, T., Bent, S., Clifton, V., Shoubridge, C., Shankar, K., & Roberts, C. (2017). Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation. BMC Genomics, 18(1), 10-1-10-13.
DOI Scopus27 WoS26 Europe PMC26
2017 Mattiske, T., Moey, C., Vissers, L., Thorne, N., Georgeson, P., Bakshi, M., & Shoubridge, C. (2017). An emerging female phenotype with loss-of-function mutations in the Aristaless-related homeodomain transcription factor ARX. Human Mutation, 38(5), 548-555.
DOI Scopus12 WoS12 Europe PMC10
2017 Ewans, L. J., Field, M., Zhu, Y., Turner, G., Leffler, M., Dinger, M. E., . . . Shoubridge, C. (2017). Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. European Journal of Human Genetics, 25(6), 763-767.
DOI Scopus15 WoS15 Europe PMC13
2017 Hinze, S., Jackson, M., Lie, S., Jolly, L., Field, M., Barry, S., . . . Shoubridge, C. (2017). Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. Translational Psychiatry, 7(5), e1110-1-e-1110-11.
DOI Scopus34 WoS35 Europe PMC30
2017 Jackson, M., Lee, K., Mattiske, T., Jaehne, E., Ozturk, E., Baune, B., . . . Shoubridge, C. (2017). Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy. Neurobiology of Disease, 105, 245-256.
DOI Scopus8 WoS8 Europe PMC6
2017 Lee, K., Ireland, K., Bleeze, M., & Shoubridge, C. (2017). ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons. Neuroscience, 357, 220-231.
DOI Scopus14 WoS13 Europe PMC15
2017 Coman, D., Fullston, T., Shoubridge, C., Leventer, R., Wong, F., Nazaretian, S., . . . McGillivray, G. (2017). X-Linked lissencephaly with absent corpus callosum and abnormal genitalia: an evolving multisystem syndrome with severe congenital intestinal diarrhea disease. Child Neurology o\Open, 4, 1-6.
DOI Europe PMC5
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. Epilepsia, 57(11), 1858-1869.
DOI Scopus56 WoS54 Europe PMC49
2016 Mayne, B., Bianco-Miotto, T., Buckberry, S., Breen, J., Clifton, V., Shoubridge, C., & Roberts, C. (2016). Large scale gene expression meta-analysis reveals tissue-specific, sex-biased gene expression in humans. Frontiers in Genetics, 7(OCT), 183-1-183-14.
DOI Scopus81 WoS83 Europe PMC99
2016 Mattiske, T., Lee, K., Gecz, J., Friocourt, G., & Shoubridge, C. (2016). Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene. Human Molecular Genetics, 25(24), 5433-5443.
DOI Scopus14 WoS11 Europe PMC13
2016 Moey, C., Hinze, S., Brueton, L., Morton, J., McMullan, D., Kamien, B., . . . Shoubridge, C. (2016). Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. European Journal of Human Genetics, 24(3), 373-380.
DOI Scopus46 WoS40 Europe PMC41
2016 Moey, C., Topper, S., Karn, M., Johnson, A., Das, S., Vidaurre, J., & Shoubridge, C. (2016). Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. European Journal of Human Genetics, 24(5), 681-689.
DOI Scopus14 WoS13 Europe PMC11
2015 Ishibashi, M., Manning, E., Shoubridge, C., Krecsmarik, M., Hawkins, T., Giacomotto, J., . . . Rinkwitz, S. (2015). Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Human Genetics, 134(11-12), 1163-1182.
DOI Scopus16 WoS13 Europe PMC14
2015 Polling, S., Ormsby, A., Wood, R., Lee, K., Shoubridge, C., Hughes, J., . . . Hatters, D. (2015). Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation. Nature Structural and Molecular Biology, 22(12), 1008-1015.
DOI Scopus40 WoS41 Europe PMC38
2015 Tan, C., Shard, C., Ranieri, E., Hynes, K., Pham, D., Leach, D., . . . Gecz, J. (2015). Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics, 24(18), 5250-5259.
DOI Scopus72 WoS65 Europe PMC58
2015 Marques, I., Sá, M., Soares, G., Mota, M., Pinheiro, C., Aguiar, L., . . . Jorge, P. (2015). Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Molecular genetics & genomic medicine, 3(3), 203-214.
DOI Scopus18 WoS19 Europe PMC14
2014 Lee, K., Mattiske, T., Kitamura, K., Gecz, J., & Shoubridge, C. (2014). Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Human Molecular Genetics, 23(4), 1084-1094.
DOI Scopus19 WoS17 Europe PMC20
2013 Poeta, L., Fusco, F., Drongitis, D., Shoubridge, C., Manganelli, G., Filosa, S., . . . Miano, M. (2013). A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. American Journal of Human Genetics, 92(1), 114-125.
DOI Scopus45 WoS42 Europe PMC38
2012 Huang, L., Jolly, L., Willis-Owen, S., Gardner, A., Sharma, R., Douglas, E., . . . Gecz, J. (2012). A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. American Journal of Human Genetics, 91(4), 694-702.
DOI Scopus84 WoS76 Europe PMC83
2012 Shoubridge, C., Gardner, A., Schwartz, C., Hackett, A., Field, M., & Gecz, J. (2012). Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?. European Journal of Human Genetics, 2012(12), 1-4.
DOI Scopus9 WoS8 Europe PMC5
2012 Shoubridge, C., Tan, M., Seiboth, G., & Gecz, J. (2012). ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Human Molecular Genetics, 21(7), 1639-1647.
DOI Scopus21 WoS19 Europe PMC19
2012 Nguyen, L., Jolly, L., Shoubridge, C., Chan, W., Huang, L., Laumonnier, F., . . . Gecz, J. (2012). Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. Molecular Psychiatry, 17(11), 1103-1115.
DOI Scopus95 WoS91 Europe PMC93
2012 Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. Advances in Experimental Medicine and Biology, 769, 185-203.
DOI Scopus16
2011 Fullston, T., Finnis, M., Hackett, A., Hodgson, B., Brueton, L., Baynam, G., . . . Gecz, J. (2011). Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Clinical Genetics, 80(6), 510-522.
DOI Scopus22 WoS22 Europe PMC20
2010 Shoubridge, C., Walikonis, R., Gecz, J., & Harvey, R. (2010). Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. Small GTPases, 1(2), 98-103.
DOI Scopus30 Europe PMC23
2010 Shoubridge, C., Fullston, T., & Gecz, J. (2010). ARX spectrum disorders: Making inroads into the molecular pathology. Human Mutation, 31(8), 889-900.
DOI Scopus158 WoS135 Europe PMC118
2010 Shoubridge, C., Tan, M., Fullston, T., Cloosterman, D., Coman, D., McGillivray, G., . . . Gecz, J. (2010). Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. Pathogenetics, 3(1), 1-15.
DOI Scopus34 Europe PMC30
2010 Shoubridge, C., Tarpey, P., Abidi, F., Ramsden, S., Rujirabanjerd, S., Murphy, J., . . . Gecz, J. (2010). Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6), 486-488.
DOI Scopus137 WoS124 Europe PMC115
2010 Laumonnier, F., Shoubridge, C., Antar, C., Nguyen, L., Van Esch, H., Kleefstra, T., . . . Raynaud, M. (2010). Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Molecular Psychiatry, 15(7), 767-776.
DOI Scopus105 WoS96 Europe PMC94
2009 Tarpey, P., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., . . . Stratton, M. (2009). A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics, 41(5), 535-543.
DOI Scopus521 WoS481 Europe PMC456
2009 Gecz, J., Shoubridge, C., & Corbett, M. (2009). The genetic landscape of intellectual disability arising from chromosome X. Trends in Genetics, 25(7), 308-316.
DOI Scopus172 WoS154 Europe PMC148
2008 Dibbens, L., Tarpey, P., Hynes, K., Bayly, M., Scheffer, I., Smith, R., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics, 40(6), 776-781.
DOI Scopus390 WoS350 Europe PMC317
2008 Jaekle Santos, L., Xing, C., Barnes, R., Ades, L., Megarbane, A., Vidal, C., . . . Zinn, A. (2008). Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Human Genetics, 123(5), 469-476.
DOI Scopus20 WoS11 Europe PMC8
2007 Voss, A., Gamble, R., Collin, C., Shoubridge, C., Corbett, M., Gecz, J., & Thomas, T. (2007). Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. Gene Expression Patterns, 7(8), 858-871.
DOI Scopus47 WoS45 Europe PMC41
2007 Shoubridge, C., Cloosterman, D., Parkinson-Lawrence, E., Brooks, D., & Gecz, J. (2007). Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics, 90(1), 59-71.
DOI Scopus40 WoS34 Europe PMC37
2007 Tarpey, P., Raymond, F., Nguyen, L., Rodriguez, J., Hackett, A., Vandeleur, L., . . . Gecz, J. (2007). Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics, 39(9), 1127-1133.
DOI Scopus224 WoS215 Europe PMC208
2007 McKenzie, O., Ponte, I., Mangelsdorf, M., Finnis, M., Colasante, G., Shoubridge, C., . . . Broccoli, V. (2007). Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience, 146(1), 236-247.
DOI Scopus65 WoS62 Europe PMC57
2003 Shoubridge, C., & Read, L. (2003). Preferential intestinal delivery of long[arg(3)] Insulin-like growth factor (LR(3)IGF-I) over IGF-I in preweaning and adult rats. Endocrinology, 144(5), 1887-1893.
DOI
2001 Shoubridge, C., Steeb, C., & Read, L. (2001). IGFBP mRNA expression in small intestine of rat during postnatal development. American Journal of Physiology. Gastrointestinal and Liver Physiology, 281(6), G1378-G1384.
DOI Scopus17 WoS11 Europe PMC8
2001 Howarth, G., & Shoubridge, C. (2001). Enhancement of intestinal growth and repair by growth factors. Current Opinion in Pharmacology, 1(6), 568-574.
DOI Scopus35 Europe PMC27
1998 Steeb, C. B., Lamb, J., Shoubridge, C., Tivey, D., Penttila, I., & Read, L. (1998). Systemically but Not Orogastrically Delivered Insulin-Like Growth Factor (IGF) - I and Long - [Arg3] IGF-I Stimulates Intestinal Disaccharidase Activity in Two Age Groups of Suckling Rats. Pediatric Research, 44(5), 663-672.
DOI Scopus15 WoS13 Europe PMC10
1997 Steeb, C. B., Shoubridge, C., Tivey, D., & Read, L. (1997). Systemic infusion of IGF-I or LR(3)IGF-I stimulates visceral organ growth and proliferation of gut tissues in suckling rats. American Journal of Physiology, 272(3 Pt 1), G522-G533.
DOI WoS47 Europe PMC20
1997 Steeb, C. B., Shoubridge, C. A., Tivey, D. R., & Read, L. C. (1997). Systemic infusion of IGF-I or LR3IGF-I stimulates visceral organ growth and proliferation of gut tissues in suckling rats. American Journal of Physiology Gastrointestinal and Liver Physiology, 272(3 35-3), G522-G533.
DOI Scopus50
1997 Steeb, C. B., Lamb, J., Shoubridge, C., Tivey, D., Baudinette, R., & Read, L. (1997). Growth response of the gastrointestinal tract to orogastric IGF-I peptides in suckling rats and tammar wallabies. GASTROENTEROLOGY, 112(4), A908.
1996 Xian, C., Upton, Z., Goddard, C., Shoubridge, C., McNeil, K., Wallace, J., . . . Francis, G. (1996). Production of a human epidermal growth factor fusion protein and its degradation in rat gastrointestinal flushings. Journal of Molecular Endocrinolgy, 16(1), 89-97.
DOI Scopus3 WoS2 Europe PMC1
1995 Xian, C., Shoubridge, C., & Read, L. (1995). Degradation of IGF-1 in the adult rat gastrointestinal tract is limited by a specific antiserum or the dietary protein casein. Journal of Endocrinology, 146(2), 215-225.
DOI Scopus60 WoS53 Europe PMC30

Year Citation
2024 Lee, H. L., Chan, L. L. H., Watson, L. E., Jalleh, R. J., Lee, P., Shoubridge, C., & Zimmermann, A. T. (2024). Factors predicting persistently high HbA<sub>1c</sub> levels in adults with type 1 diabetes. In DIABETOLOGIA Vol. 67 (pp. S170-S171). SPAIN, Madrid: SPRINGER.
2016 Zerem, A., Haginoya, K., Lev, D., Blumkin, L., Kivity, S., Linder, I., . . . Lerman-Sagie, T. (2016). THE MOLECULAR AND PHENOTYPIC SPECTRUM OF <i>IQSEC2</i> 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.
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. 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 Conference (ESHG). Gothenburg, Sweden: Springer Nature.
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.
2008 Tarpey, P., Dibbens, L. M., Hynes, K., Smith, R., Edkins, S., Teague, J., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Poster session presented at the meeting of JOURNAL OF MEDICAL GENETICS. Univ York, York, ENGLAND: BMJ PUBLISHING GROUP.

Year Citation
2025 Neadley, K. E., Downes, M., Chan, L., Poirier, B., Lynch, J., Boyd, M., & Shoubridge, C. (2025). A Health Navigator intervention to address the unmet social needs of caregivers of hospitalised children in South Australia: protocol for a mixed-methods pilot study.
DOI
2024 Shoubridge, C., Maddison, J., Lynch, J., & Boyd, M. (2024). Profiling health and socioeconomic disadvantage in the northern Adelaide Local Health Network population.
DOI Europe PMC1
Competitive Research Grants and other funding

I have received ~ $5.3 million in competitive funding since 2007, most as lead investigator, including ~$800,000 since 2021.  

Selected funding shown.                  

2025 Australian Functional Genomics Network Catalyst Grant $45,000
2024 The Hospital Research Foundation  $100,000
2024 Women's and Children's Health Research Fund $200,000
2024 IQSEC2 Research and Advocacy Foundation Research Grant     $45,000
2023-2024 Channel 7 Children’s Research Foundation Grant   $100,000
2022-2023 The Hospital Research Foundation  $180,000
2021 University of Adelaide, FHMS Near Miss funding  $94,000
2016-2019   NHMRC project grant App1099538        $683,622 
2016, 2014, 2013  Channel 7 Children’s Research Foundation Grant   $ 75,000 each
2014-2016  NHMRC project grant App1059120 (CIC)          $534,021 
2014-2016 NHMRC project grant App1063025       $576,174 
2014 Women’s and Children’s Hospital Foundation Grant        $  75,000 
2013-2016   Australian Research Council Future Fellowship       $787,989                         
2011-2013                                          NHMRC project grant App1002732   $433,786 
2011-2013      NHMRC project grant App1006586       $526,706
2011-2012     MS McLeod Research Fellowship     $235,000
2007-2010  NHMRC Peter Doherty Biomedical Training Fellowship    $235,000

                                   

Since 2021 I have been the course coordinator for Bachelor of Health Science PAEDIAT_3000 Biology of Childhood Growth, Development and Health. 

In this course, students will investigate the biological processes underlying infant, child and adolescent growth, development and health. This will include discussion of normal and perturbed neonatal, infant, child and adolescent growth and development. The course includes specific exploration of childhood and adolsecent neurodevelopment and assessment, endocrinology of growth and puberty, development of the immune system including a focus on the microbiome and development of autoimmunity. We will consider prenatal diagnosis and common genetic disorders in childhood. We will investigate the biology, prevention and management of common childhood diseases inlcuding paediatric sleep disorders, the implications and prevention of obesity in childhood and conclude with discussions of infectious disease in childhood. Social and ethical implications of current practice, interventions and research will be discussed within appropriate topics. Students will have opportunities to hear from scientists and practitioners with relevant expertise. Active learning will be encouraged, for example, through guided reading and group exercises. Students will enhance skills in analysis of literature and in creating a coherent written account of a body of work.

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
2017 Co-Supervisor bHLH PAS and HD protein interactions in neuronal development and pathology Doctor of Philosophy Doctorate Full Time Mr Joseph James Rossi

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

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 -

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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