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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 (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.
Globally, Indigenous people have a greater incidence and earlier onset of diabetes than the general population and have higher documented rates of emotional distress and mental illness. This systematic review will provide a synthesis and critical appraisal of the evidence focused on the social and emotional well-being of Indigenous peoples living with diabetes, including prevalence, impact, moderators, and the efficacy of interventions.
To test the utility and acceptability of a novel VR training tool for community health practitioners in assessing diabetes-related foot disease in Aboriginal and Torres Strait Islander people.
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.
Our goal was to explore and compare risk factors, patterns of management and survival outcomes in Indigenous compared with non-Indigenous Australian patients using the Victorian Lung Cancer Registry.
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.
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.
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.