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Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.
In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed.
The 2023 Australian guideline for assessing and managing cardiovascular disease risk provides updated evidence-based recommendations for the clinical assessment and management of cardiovascular disease (CVD) risk for primary prevention. It includes the new Australian CVD risk calculator based on an equation developed from a large New Zealand cohort study, customised and recalibrated for the Australian population. The new guideline replaces the 2012 guideline that recommended CVD risk assessment using the Framingham risk equation.
Environmental epigenetics is a fast-growing field of scientific research attracting interest from key stakeholders in Indigenous health internationally, including researchers, clinicians, policymakers, and advocacy organisations. It is the study of how various external factors, including food, stress, and toxins, alter genetic expression, and could be biologically passed down to children (and potentially grandchildren).
Cardiovascular disease contributes significantly to disease burden among many Indigenous populations. However, data on stroke incidence in Indigenous populations are sparse. We aimed to investigate what is known of stroke incidence in Indigenous populations of countries with a very high Human Development Index locating the research in the broader context of Indigenous health.
Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.
Access and adherence to cardiac rehabilitation (CR) remain suboptimal, particularly in rural and remote settings. This study evaluated the implementation of person-centred, evidence-based CR delivery model tailored to improve access and completion.
Language development is critical for children's life chances. Promoting parent-child interactions is suggested as one mechanism to support language development in the early years. However, limited evidence exists for a causal effect of parent-child interactions on children's language development.
Access 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.
Aboriginal and Torres Strait Islander communities are diverse, strong and faced with adverse social circumstances and unacceptable health and wellbeing outcomes wrought by colonisation. The need for strengths-based initiatives that tailor services according to local knowledges is well accepted, yet few studies have evaluated self-determined strategies to redress the social determinants of health.