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.

My Research
Career
Publications
Grants and Funding
Supervision
Professional Activities
Contact

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

Neuroscience, Behaviour and Brain Health Child and Adolescent Health

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

Journals

Year	Citation
2024	Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., . . . Shashi, V. (2024). Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. Journal of Clinical Investigation, 134(1), 16 pages. DOI Scopus2 WoS1 Europe PMC1
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 Scopus2 WoS2 Europe PMC3
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 Scopus48 WoS38 Europe PMC29
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 Scopus3 WoS2 Europe PMC2
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
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 Scopus3 WoS1 Europe PMC2
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 Scopus2
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 Scopus19 WoS19 Europe PMC15
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 Scopus38 WoS34 Europe PMC23
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 Scopus8 WoS7 Europe PMC6
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 Scopus16 WoS15 Europe PMC10
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 Scopus10 WoS10 Europe PMC6
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 Scopus22 WoS21 Europe PMC17
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 Scopus9 WoS8 Europe PMC5
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 Scopus13 WoS13 Europe PMC7
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 Scopus27 WoS26 Europe PMC18
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 Scopus7 WoS6 Europe PMC4
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 Scopus12 WoS9 Europe PMC10
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 PMC3
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 Scopus47 WoS43 Europe PMC28
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 Scopus65 WoS60 Europe PMC57
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 Scopus11 WoS9 Europe PMC8
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 Scopus41 WoS34 Europe PMC27
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 Scopus12 WoS9 Europe PMC8
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 Scopus15 WoS12 Europe PMC11
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 Scopus37 WoS34 Europe PMC26
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 Scopus65 WoS54 Europe PMC39
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 WoS18 Europe PMC11
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 Scopus18 WoS16 Europe PMC15
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 Scopus37 WoS34 Europe PMC27
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 Scopus76 WoS68 Europe PMC64
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 Scopus18 WoS15 Europe PMC14
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 Scopus84 WoS72 Europe PMC66
2012	Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. Advances in Experimental Medicine and Biology, 769, 185-203. DOI Scopus12
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 WoS21 Europe PMC16
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 PMC21
2010	Shoubridge, C., Fullston, T., & Gecz, J. (2010). ARX spectrum disorders: Making inroads into the molecular pathology. Human Mutation, 31(8), 889-900. DOI Scopus147 WoS125 Europe PMC94
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 Scopus33 Europe PMC20
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 Scopus130 WoS113 Europe PMC89
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 Scopus98 WoS81 Europe PMC69
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 Scopus486 WoS449 Europe PMC389
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 Scopus168 WoS149 Europe PMC130
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 Scopus360 WoS311 Europe PMC241
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 Scopus16 WoS10 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 Scopus44 WoS38 Europe PMC36
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 Scopus39 WoS33 Europe PMC31
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 Scopus208 WoS190 Europe PMC169
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 Scopus63 WoS59 Europe PMC48
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 Scopus16 WoS11 Europe PMC7
2001	Howarth, G., & Shoubridge, C. (2001). Enhancement of intestinal growth and repair by growth factors. Current Opinion in Pharmacology, 1(6), 568-574. DOI Scopus32 Europe PMC24
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 WoS46 Europe PMC18
1997	Steeb, C., Shoubridge, C., Tivey, D., & Read, L. (1997). Systemic infusion of IGF-I or LR<sup>3</sup>IGF-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). DOI Scopus48
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 Scopus2 WoS1 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 Scopus57 WoS51 Europe PMC25

Book Chapters

Year	Citation
2013	Mattiske, T., Tan, M., Gecz, J., & Shoubridge, C. (2013). Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions. In D. Hatters, & A. Hannan (Eds.), Tandem repeats in genes, proteins, and disease : methods and protocols (Vol. 1017, pp. 121-133). Springer. DOI Scopus2 Europe PMC1
2013	Tan, M., Gecz, J., & Shoubridge, C. (2013). PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example. In D. Hatters, & A. Hannan (Eds.), Tandem repeats in genes, proteins, and disease : methods and protocols (Vol. 1017, pp. 105-120). United States: Springer. DOI Scopus4 Europe PMC3
2012	Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. In A. Hannan (Ed.), Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease (Vol. 769, 1 ed., pp. 185-203). United States: Springer. DOI Scopus3 WoS12 Europe PMC10

Conference Papers

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 <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.

Conference Items

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.

Preprint

Year Citation
2024 Shoubridge, C., Maddison, J., Lynch, J., & Boyd, M. (2024). Profiling health and socioeconomic disadvantage in the northern Adelaide Local Health Network population.
DOI

Year	Citation
2024	Shoubridge, C., Maddison, J., Lynch, J., & Boyd, M. (2024). Profiling health and socioeconomic disadvantage in the northern Adelaide Local Health Network population. DOI

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	Co-Supervisor	Integrating social and medical care at a hospital serving a disadvantaged urban community in South Australia	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	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	-

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

Associate Professor Cheryl Shoubridge

Research Interests

The key areas of research include:

Appointments

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Research Interests

Journals

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Competitive Research Grants and other funding

Current Higher Degree by Research Supervision (University of Adelaide)

Past Higher Degree by Research Supervision (University of Adelaide)

Committee Memberships

Memberships

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