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Islet autoimmunity in young First Nations women with prediabetes and type 2 diabetes

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.

Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context

Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.

Documenting Cardiovascular-Kidney-Metabolic Risk and Disease Within an Aboriginal Cohort

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.

Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemia

Acute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.

Care provided to women during and after a pregnancy complicated by hyperglycaemia: the impacts of a multi-component health systems intervention

Aboriginal and Torres Strait Islander women experience a disproportionate burden of hyperglycaemia in pregnancy. A multi-component health systems intervention aiming to improve antenatal and postpartum care was implemented across Australia’s Northern Territory (NT) and Far North Queensland (FNQ) between 2016 and 2019. Components included clinician education, improving recall systems, enhancing policies and guidelines, and embedding Diabetes in Pregnancy (DIP) Clinical Registers in systems of care. This program was evaluated to determine impacts on clinical practice and maternal health.

From Deficit to Strength-Based Aboriginal Health Research—Moving toward Flourishing

Aboriginal Australians have a fundamental human right to opportunities that lead to healthy and flourishing lives. While the impact of trauma on Aboriginal Australians is well-documented, a pervasive deficit narrative that focuses on problems and pathology persists in research and policy discourse.

DraculR: A Web-Based Application for In Silico Haemolysis Detection in High-Throughput microRNA Sequencing Data

The search for novel microRNA (miRNA) biomarkers in plasma is hampered by haemolysis, the lysis and subsequent release of red blood cell contents, including miRNAs, into surrounding fluid. The biomarker potential of miRNAs comes in part from their multicompartment origin and the long-lived nature of miRNA transcripts in plasma, giving researchers a functional window for tissues that are otherwise difficult or disadvantageous to sample.

Indigenous peoples and inclusion in clinical and genomic research: Understanding the history and navigating contemporary engagement

Despite significant improvements in pediatric cancer survival outcomes, there remain glaring disparities in under-represented racial and ethnic groups that warrant mitigation by the scientific and clinical community. To address and work towards eliminating such disparities, the Pacific Pediatric Neuro-Oncology Consortium (PNOC) and Children's Brain Tumor Network (CBTN) established a Diversity, Equity, and Inclusion (DEI) working group in 2020. The DEI working group is dedicated to improving access to care for all pediatric patients with central nervous system (CNS) tumors, broadening diversity within the research community, and providing sustainable data-driven solutions.

Progesterone receptor mediates ovulatory transcription through RUNX transcription factor interactions and chromatin remodelling

Progesterone receptor (PGR) plays diverse roles in reproductive tissues and thus coordinates mammalian fertility. In the ovary, rapid acute induction of PGR is the key determinant of ovulation through transcriptional control of a unique set of genes that culminates in follicle rupture. However, the molecular mechanisms for this specialized PGR function in ovulation is poorly understood.

Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping review

Indigenous communities are under-represented in genomics research, contributing to inequitable health-related knowledge, outcomes, and benefits. Under-representation reflects enduring consequences of colonial research practices that have engendered cultural, ethical, legal, and social (CELS) concerns among communities.