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Alex Brown BMed, MPH, PhD, FRACP (hon.), FCSANZ, FAAHMS Professor of Indigenous Genomics +61421278314 alex.brown@anu.edu.au Professor of Indigenous
Globally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession.
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.
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).
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.
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.
To describe Aboriginal and Torres Strait Islander communities' processes, positioning and experiences of health and medical research and their recommendations.
The Model of Care supports the health of women and their babies with cardiometabolic complications of pregnancy and aids in the prevention and management of cardiometabolic disease in the short and long-term. It was co-designed by Aboriginal women with lived experiences of cardiometabolic complications in pregnancy.