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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

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.

Workforce training needs to address social and emotional wellbeing in home-based Aboriginal and Torres Strait Islander aged care

To explore the training needs of the home care workforce in supporting the social and emotional wellbeing of Aboriginal and Torres Strait Islander peoples receiving aged care services through the Home Care Package Program.

Epigenetic Science and Indigenous health: Key Issues and Considerations for Future Research

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). 

Incidence of Stroke in Indigenous Populations of Countries With a Very High Human Development Index A Systematic Review

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.

Future-proofing genomic data and consent management: a comprehensive review of technology innovations

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.

Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis

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.

Children arriving hungry in the first year of school: population trends in Australia from 2009 to 2021

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.

A methodological approach to generate local solutions that promote Aboriginal and Torres Strait Islander social and emotional wellbeing on Kaurna Country, 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.

The Causal Effect of Parent–Child Interactions on Child Language Development at 3 and 4 Years

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.

Translation of culturally and contextually informed diabetes training for Aboriginal primary health care providers on Aboriginal client outcomes: Protocol of a cluster randomized crossover trial of effectiveness

Indigenous populations globally have significantly high rates of type 2 diabetes compared to their non-Indigenous counterparts. This study aims to implement and evaluate the effectiveness of a culturally and contextually informed Aboriginal Diabetes Workforce Training Program on Aboriginal primary health care workforce knowledge, attitude, confidence, skill and practice relating to diabetes care.