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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

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.

Cardiometabolic Risk Markers for Aboriginal and Torres Strait Islander Children and Youths: A Systematic Review of Data Quality and Population Prevalence

Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches.

Determination of Tr1 cell populations correlating with distinct activation states in acute IAV infection

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.

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 study

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.

Exploring the Reported Strengths and Limitations of Aboriginal and Torres Strait Islander Health Research: A Narrative Review of Intervention Studies

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.

Getting to the heart of the matter: a research partnership with Aboriginal women in South and Central Australia

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.

RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)

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.

Further investment in Aboriginal and Torres Strait Islander men's health research funding is urgently required

Alex Brown BMed, MPH, PhD, FRACP (hon.), FCSANZ, FAAHMS Professor of Indigenous Genomics +61421278314 alex.brown@anu.edu.au Professor of Indigenous

Individuals with Inflammatory Bowel Disease Have an Altered Gut Microbiome Composition of Fungi and Protozoa

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.

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 project

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.