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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.

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.

The impact of genetics and the environment on cancer risk in Indigenous Australians: a narrative review

Aboriginal and Torres Strait Islander (hereafter respectfully named Indigenous) Australians are diagnosed with some cancers substantially more frequently than non-Indigenous Australians implying a different risk factor landscape. Additionally, poorer outcomes for certain cancers are exacerbated by lower cancer screening rates and later diagnoses compared to non-Indigenous Australians.

Consultation informs strategies for improving the use of functional evidence in variant classification

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

Exploring the evidence on housing and health among Indigenous peoples in high-income countries: A scoping review protocol

The objective of this scoping review is to understand the nature of the published evidence on housing suitability, affordability, insecurity, and homelessness in relation to physical and mental health, domestic violence, and health service use among Indigenous people in high-income countries.

Priority setting: Development of the South Australian Aboriginal Chronic Disease Consortium RoadMap for Action

Aboriginal and Torres Strait Islander (Aboriginal) people in South Australia are overburdened by cardiovascular disease, diabetes and cancer. The South Australian Aboriginal Chronic Disease Consortium (Consortium) was established in June 2017 as a collaborative partnership to lead the implementation of three state-wide chronic disease plans using a strategic approach to identifying key priority areas for action.

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health

A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed.

Transient naive reprogramming corrects hiPS cells functionally and epigenetically

Cells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown.

Association between maternal hyperglycemia in pregnancy and offspring anthropometry in early childhood: the pandora wave 1 study

In-utero hyperglycemia exposure influences later cardiometabolic risk, although few studies include women with pre-existing type 2 diabetes (T2D) or assess maternal body mass index (BMI) as a potential confounder.