Higher Degree by Research Candidate
Adelaide Medical School
Faculty of Health and Medical Sciences
Intellectual disability (ID) affects 1 in 50 people worldwide, with genetic causes responsible for ~40% of these case. Up to 30% of children with ID also present with seizures, most unresponsive to anti-convulsant therapy, thus the need for treatment is high. Using mouse models with mutations in a known ID and seizure gene, ARX, we will investigate the effectiveness of short-term estradiol treatment on symptom alleviation. As part of this analysis I will monitor improvements to the onset and frequency of seizures, in conjunction with improvements in behavioural and cognitive deficits. My analysis will begin to elucidate the molecular and cellular changes following treatment that lead to phenotypic improvements. This knowledge may lead to future targets for therapeutic interventions for these patients.
Date Position Institution name 2016 - 2016 NHMRC Graduate Research Assistant The University of Adelaide
Language Competency English Can read, write, speak, understand spoken and peer review
Date Institution name Country Title 2015 - 2015 The University of Adelaide Australia Bachelor of Health Sciences (Honours) 2011 - 2014 The University of Adelaide Australia Bachelor of Science (Biomedical Science)
Date Title Institution Country 2017 PhD in Medicine The University of Adelaide Australia
Year Citation 2019 Jackson, M., Loring, K., Homan, C., Thai, M., 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), 18 pages.
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