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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.
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.
This study aimed to develop innovative and practical strategies and recommendations for aged care policy and practice that support the needs of Aboriginal and Torres Strait Islander peoples.
Dementia is a health priority for Indigenous peoples. Here, we reviewed studies on the prevalence of dementia or cognitive impairment among Indigenous populations from countries with a very high Human Development Index (≥0·8). Quality was assessed using the Joanna Briggs Institute risk-of-bias tool and CONSolIDated critERia for strengthening the reporting of health research involving Indigenous peoples (CONSIDER), with oversight provided by an Indigenous Advisory Board.
In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted.
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.
Type I regulatory (Tr1) cells are defined as FOXP3-IL-10-secreting clusters of differentiation (CD4+) T cells that contribute to immune suppression and typically express the markers LAG-3 and CD49b and other co-inhibitory receptors. These cells have not been studied in detail in the context of the resolution of acute infection in the lung.
Alex Brown BMed, MPH, PhD, FRACP (hon.), FCSANZ, FAAHMS Professor of Indigenous Genomics +61421278314 alex.brown@anu.edu.au Professor of Indigenous
A new national network will be established to advance the benefits from Genomic Medicine for Aboriginal and Torres Strait Islander people living in Australia.