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Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics ContextOngoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.
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Longitudinal Study of Indigenous Children: Adolescent never smoking and associations with individual, social, and environmental factorsFuelled by the tobacco industry, commercial tobacco use is a major cause of preventable morbidity and mortality among Aboriginal and Torres Strait Islander peoples. Preventing adolescent smoking initiation is critical to reducing uptake. Understanding individual, social, and environmental factors that are protective against smoking can inform prevention strategies.
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Priority setting: Development of the South Australian Aboriginal Chronic Disease Consortium RoadMap for ActionAboriginal and Torres Strait Islander (Aboriginal) people in South Australia are overburdened by cardiovascular disease, diabetes and cancer. The South Australian Aboriginal Chronic Disease Consortium (Consortium) was established in June 2017 as a collaborative partnership to lead the implementation of three state-wide chronic disease plans using a strategic approach to identifying key priority areas for action.
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NEARER SCAN (LENO BESIK) evaluation of a task-sharing echocardiographic active case finding programme for rheumatic heart disease in Australia and Timor-LesteRheumatic heart disease (RHD) is underdiagnosed globally resulting in missed treatment opportunities and adverse clinical outcomes. We describe the protocol for a study which aims to co-design, implement and conduct an evaluation of a task-sharing approach to echocardiographic active case finding for early detection and management of RHD in high-risk settings in Australia and Timor-Leste.
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DraculR: A Web-Based Application for In Silico Haemolysis Detection in High-Throughput microRNA Sequencing DataThe search for novel microRNA (miRNA) biomarkers in plasma is hampered by haemolysis, the lysis and subsequent release of red blood cell contents, including miRNAs, into surrounding fluid. The biomarker potential of miRNAs comes in part from their multicompartment origin and the long-lived nature of miRNA transcripts in plasma, giving researchers a functional window for tissues that are otherwise difficult or disadvantageous to sample.
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Randomised clinical trial using Coronary Artery Calcium Scoring in Australian Women with Novel Cardiovascular Risk Factors (CAC-WOMEN Trial): Study protocolCardiovascular disease (CVD) is the leading cause of death in women around the world. Aboriginal and Torres Strait Islander women (Australian Indigenous women) have a high burden of CVD, occurring on average 10-20 years earlier than non-Indigenous women.
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Children arriving hungry in the first year of school: population trends in Australia from 2009 to 2021Access to adequate nutrition is a human right. In 2023, 23% of Australian households were severely food insecure, reducing food intake, skipping meals or days of eating. Food insecurity in early childhood is linked to poor health and development. Specifically, breakfast provides children with the necessary nutrients required for sustained attention, memory, and cognitive growth. Australian research has reported that one in three children aged 8–18 years regularly skip breakfast. However, there is little understanding of the prevalence of food insecurity among young children in Australia.
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Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous healthType-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.
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Early moderate prenatal alcohol exposure and maternal diet impact offspring DNA methylation across speciesAlcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure resembling common patterns of alcohol consumption in pregnancy in humans.
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“It Empowers You to Empower Them”: Health Professional Perspectives of Care for Hyperglycaemia in Pregnancy Following a Multi-Component Health Systems InterventionThe Northern Territory and Far North Queensland have a high proportion of Aboriginal and Torres Strait Islander women birthing who experience hyperglycaemia in pregnancy. A multi-component health systems intervention to improve antenatal and postpartum care in these regions for women with hyperglycaemia in pregnancy was implemented between 2016 and 2019.