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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.
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.
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.
Access to adequate nutrition is a human right. In 2023, 23% of Australian households were severely food insecure, reducing food intake, skipping meals or days of eating. Food insecurity in early childhood is linked to poor health and development. Specifically, breakfast provides children with the necessary nutrients required for sustained attention, memory, and cognitive growth. Australian research has reported that one in three children aged 8–18 years regularly skip breakfast. However, there is little understanding of the prevalence of food insecurity among young children in Australia.
Language development is critical for children's life chances. Promoting parent-child interactions is suggested as one mechanism to support language development in the early years. However, limited evidence exists for a causal effect of parent-child interactions on children's language development.
Type-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.
Declining worldwide or national stroke incidence rates are not always mirrored in disadvantaged, minority populations. Logistical barriers exist for effective measurement of incidence in minority populations; such data are required to identify targets for culturally appropriate interventions. In this comparative review, we aimed to examine whether “gold-standard” methodologies of stroke incidence studies are most effective for minority populations.
Due to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on pathology (i.e., what a tumor looks like under the microscope) to thousands of diseases based on molecular tumor profiles (i.e., what a tumor looks like when its altered genome is interrogated). Most cancers arise from alterations to the genome, including changes in the number or structure of chromosomes and variations in a single building block of the genetic code.
The relationship between ethnicity and mortality of patients critically ill with COVID-19 in Australia has not been described. Defining those communities at the highest risk of severe COVID-19 may assist with formulating effective public health policy and may improve the equitable delivery of health care in Australia.
A new national network will be established to advance the benefits from Genomic Medicine for Aboriginal and Torres Strait Islander people living in Australia.