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Aboriginal and Torres Strait Islander community experiences and recommendations for health and medical research: a mixed methods study

To describe Aboriginal and Torres Strait Islander communities' processes, positioning and experiences of health and medical research and their recommendations.

Achieving cultural safety in genetic counseling for Aboriginal and Torres Strait Islander people in Australia

Globally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession.

Prevalence of youth type 2 diabetes in global Indigenous populations: a systematic review

We aimed to synthesise global prevalence estimates of type 2 diabetes among Indigenous youth aged under 25 years, and examine age- and gender-specific differences and secular trends.

Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis

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.

Future-proofing genomic data and consent management: a comprehensive review of technology innovations

Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.

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.

Implementation of Evidence-Based, Person-Centered Alternative Delivery Models for Cardiac Rehabilitation in a Rural and Remote Population: The Country Heart Attack Prevention (CHAP) Project

Access and adherence to cardiac rehabilitation (CR) remain suboptimal, particularly in rural and remote settings. This study evaluated the implementation of person-centred, evidence-based CR delivery model tailored to improve access and completion.

Epidemiology and determinants of cardiovascular disease in Indigenous populations

This Review describes the burden of cardiovascular disease across Indigenous populations and contextualizes the potential drivers and contributors to inequalities between Indigenous and non-Indigenous populations. The focus is on Indigenous populations across Aotearoa New Zealand, Australia, Canada and the USA, including Aboriginal and Torres Strait Islander, American Indian, Alaska Native, Canadian First Nations, Inuit, Métis, Māori, Native Hawaiian and Pacific Islander peoples.

Powerful Nunga mums, strong healthy Bibi and families: improving care, coordination, support and knowledge of women who experience cardiometabolic complications in pregnancy

The Model of Care supports the health of women and their babies with cardiometabolic complications of pregnancy and aids in the prevention and management of cardiometabolic disease in the short and long-term. It was co-designed by Aboriginal women with lived experiences of cardiometabolic complications in pregnancy.

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.