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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.
High 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.
Alex Brown BMed, MPH, PhD, FRACP (hon.), FCSANZ, FAAHMS Professor of Indigenous Genomics +61421278314 alex.brown@anu.edu.au Professor of Indigenous
Within 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.
Conducting 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.
It is known that the bacterial gut microbiome is altered in inflammatory bowel disease (IBD), but far less is known about the role of eukaryotic microorganisms in IBD.
Opportunities 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.
RNA-sequencing (RNA-seq) efforts in acute lymphoblastic leukaemia have identified numerous prognostically significant genomic alterations which can guide diagnostic risk stratification and treatment choices when detected early.
Indigenous peoples in high income countries are disproportionately affected by Type 2 Diabetes. Socioeconomic disadvantages and inadequate access to appropriate healthcare are important contributors.