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Research
Circulating epigenomic biomarkers correspond with kidney disease susceptibility in high-risk populations with type 2 diabetes mellitusTo investigate epigenomic indices of diabetic kidney disease (DKD) susceptibility among high-risk populations with type 2 diabetes mellitus.
Research
Exploring self-determined solutions to service and system challenges to promote social and emotional wellbeing in Aboriginal and Torres Strait Islander people: a qualitative studyMany Aboriginal and Torres Strait Islander people living on Kaurna Country in northern Adelaide experience adverse health and social circumstances. The Taingiwilta Pirku Kawantila study sought to understand challenges facing Aboriginal and Torres Strait Islander communities and identify solutions for the health and social service system to promote social and emotional wellbeing.
Research
Consultation informs strategies for improving the use of functional evidence in variant classificationWhen 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.
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New funding targets diabetes and heart disease health service gapsResearchers will work with Aboriginal & Torres Strait Islander women in SA to devise better ways to care for women at risk of pregnancy complications caused by diabetes and cardiovascular disease.