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Research
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander peopleGlobally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.
Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
Research
Developmental trends in young children’s device-measured physical activity and sedentary behaviourKnowledge of developmental trends in meeting age-specific 24-hour movement behaviour guidelines is lacking. This study describes developmental trends in device-measured physical activity and sedentary time over a three-year period among Western Australian children aged two to seven years, including differences between boys and girls.
Research
Towards precision cancer medicine for Aboriginal and Torres Strait Islander cancer health equityDelivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine.
Research
Validity of using a semi-automated screening tool in a systematic review assessing non-specific effects of respiratory vaccinesThe abstract screening process of systematic reviews can take thousands of hours by two researchers. We aim to determine the reliability and validity of Research Screener, a semi-automated abstract screening tool within a systematic review on non-specific and broader effects of respiratory vaccines on acute lower respiratory infection hospitalisations and antimicrobial prescribing patterns in young children.
Research
Interpregnancy interval and adverse birth outcomes: a population-based cohort study of twinsTo investigate associations between interpregnancy intervals (IPIs) and adverse birth outcomes in twin pregnancies.
Research
Specific IgA, but Not IgG, in Human Milk from COVID-19-Infected Mothers Neutralizes SARS-CoV-2This study highlights the importance of human milk in providing anti-severe acute respiratory syndrome coronavirus 2 immunity to newborns. The highest protective activity of human milk against COVID-19 was found in colostrum from infected mothers.
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Identification of subgroups of children in the Australian Autism Biobank using latent class analysisThe identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations. Few previous studies have considered medical comorbidity alongside behavioural, cognitive, and psychiatric data in subgrouping analyses.
Research
Tracking of Vitamin D status from childhood to early adulthood and its association with peak bone massThere are moderate associations between vitamin D status measured in prepuberty, adolescence, and early adulthood
Research
Association between prenatal alcohol exposure and craniofacial shape of children at 12 months of ageTo examine the association between dose, frequency, and timing of prenatal alcohol exposure and craniofacial phenotype in 12-month-old children.