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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.
A new national network will be established to advance the benefits from Genomic Medicine for Aboriginal and Torres Strait Islander people living in Australia.
Preeclampsia is a hypertensive disorder of pregnancy with major maternal and fetal consequences. While the molecular basis of early-onset preeclampsia is well studied, the mechanisms underlying late-onset disease-and how they differ by fetal sex-remain poorly understood. Placental transcriptomic profiling at term can reveal persistent molecular alterations reflecting cumulative disease processes.
This research sought to describe a conceptual model of Aboriginal and Torres Strait Islander Community Controlled Health Organisation (ATSICCHO) primary health care, and the fundamental role ATSICCHOs exercise in addressing critical service gaps needed to achieve equitable outcomes for Aboriginal and Torres Strait Islander peoples.
Indigenous Australians have an increased risk of type 2 diabetes mellitus and premature cardiovascular disease. Subpopulations of high-density lipoprotein (HDL) have been associated with increased cardiovascular risk, but HDL composition, size, or function have not been studied in Indigenous Australians.
Parents and caregivers often turn to the internet for information about their child's health and development. Research investigating content related to parenting on the world's most popular social media platform, TikTok, has not been conducted.
Type 1 diabetes in First Nations peoples is low yet type 2 diabetes is at epidemic proportions. This study aimed to determine the prevalence of islet autoimmunity in First Nations women with dysglycaemia and its association with clinical features.
Aboriginal and Torres Strait Islander people experience high burden of cardiovascular, kidney and metabolic conditions, often manifesting in multimorbidity and contributing to over one third of life expectancy differentials. This article explores cardiovascular-kidney-metabolic (CKM) health within an Aboriginal cohort by documenting the burden of early risk, disease and factors associated with disease progression.
Traditional markers modestly predict chronic kidney disease progression in Aboriginal and Torres Strait Islander people. Therefore, we assessed associations of cardiometabolic and inflammatory clinical biomarkers with kidney disease progression among Aboriginal and Torres Strait Islander people with and without diabetes.
Despite evidence documenting high prevalence of type 2 diabetes among several Indigenous populations, a comprehensive systematic review of type 2 diabetes among global Indigenous Peoples has not been recently conducted. Our aim was to report region-, time-, age- and sex-specific type 2 diabetes prevalence among Indigenous adult populations globally.