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Research
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNAAneuploidies, 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.
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Non-communicable disease mortality in young people with a history of contact with the youth justice system in Queensland, Australia: a retrospective, population-based cohort studyYoung people who have had contact with the criminal justice system are at increased risk of early death, especially from injuries. However, deaths due to non-communicable diseases (NCDs) in this population remain poorly described. We aimed to estimate mortality due to NCDs in people with a history of involvement with the youth justice system, compare NCD mortality rates in this population with those in the general population, and characterise demographic and justice-related factors associated with deaths caused by NCDs in people with a history of contact with the youth justice system.
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2023 Australian guideline for assessing and managing cardiovascular disease riskThe 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.
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Strengthening assessment and response to mental health needs for Aboriginal and Torres Strait Islander children and adolescents in primary care settings: study protocol for the Ngalaiya Boorai Gabara Budbut implementation projectOpportunities for improved mental health and wellbeing of Aboriginal and Torres Strait Islander children and young people lie in improving the capability of primary healthcare services to identify mental healthcare needs and respond in timely and appropriate ways.
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Getting to the heart of the matter: a research partnership with Aboriginal women in South and Central AustraliaWithin the vast majority of qualitative health research involving Indigenous populations, Indigenous people have been marginalised from research conceptualisation and conduct. This reflects a lack of regard for Indigenous ways of knowing, being, and doing, has served to perpetuate deficit narratives of Indigenous peoples’ health and wellbeing, and contributes to failure in addressing inequities as a result of ongoing colonisation and institutionalised oppression and racism.
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Exploring the Reported Strengths and Limitations of Aboriginal and Torres Strait Islander Health Research: A Narrative Review of Intervention StudiesHigh quality intervention research is needed to inform evidence-based practice and policy for Aboriginal and Torres Strait Islander communities. We searched for studies published from 2008-2020 in the PubMed database. A narrative review of intervention literature was conducted, where we identified researcher reported strengths and limitations of their research practice.
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Murru Minya-informing the development of practical recommendations to support ethical conduct in Aboriginal and Torres Strait Islander health research: a protocol for a national mixed-methods studyConducting ethical and high-quality health research is crucial for informing public health policy and service delivery to reduce the high and inequitable burden of disease experienced by Aboriginal and Torres Strait Islander people.
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Systemic lupus erythematosus in Aboriginal and Torres Strait Islander peoples in Australia: addressing disparities and barriers to optimising patient careThe first inhabitants of Australia and the traditional owners of Australian lands are the Aboriginal and Torres Strait Islander peoples. Aboriginal and Torres Strait Islander peoples are two to four times more likely to have systemic lupus erythematosus (SLE) than the general Australian population.
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Determining the Optimal Methodology for Identifying Incident Stroke Deaths Using Administrative Datasets Within AustraliaQuantifying stroke incidence and mortality is crucial for disease surveillance and health system planning. Administrative data offer a cost-effective alternative to "gold standard" population-based studies. However, the optimal methodology for establishing stroke deaths from administrative data remains unclear.
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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.