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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.
Reports of a rise in childhood cancer incidence in Australia and globally prompted the investigation of cancer incidence and survival in South Australia and the Northern Territory over a 28-year period, with emphasis on Indigenous 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.
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.
To describe Aboriginal and Torres Strait Islander communities' processes, positioning and experiences of health and medical research and their recommendations.
We aimed to synthesise global prevalence estimates of type 2 diabetes among Indigenous youth aged under 25 years, and examine age- and gender-specific differences and secular trends.
The 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.
Citation: Skinner T, Brown A, Teixeira-Pinto A, et al. Sensitivity and specificity of Aboriginal-developed items to supplement the adapted PHQ-9
A new national network will be established to advance the benefits from Genomic Medicine for Aboriginal and Torres Strait Islander people living in Australia.