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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.
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.
To describe the perspectives of Aboriginal and Torres Strait Islander peoples and health care workers on genomics in cancer care to inform the National Framework for Genomics in Cancer Control (the Framework).
Hereditary pancreatitis causes severe early-onset pain and hospitalisation. In 15 Australian patients undergoing total pancreatectomy and islet auto transplantation (TPIAT), we observed a marked reduction in hospital admissions, inpatient days and emergency visits, complete analgesic cessation by 24 months and durable insulin independence in nearly half of the patients. These findings highlight TPIAT's potential to improve quality of life and reduce healthcare burden. Our programme aims to build evidence to support public funding and ensure equitable access to this procedure.
Aboriginal and Torres Strait Islander communities are diverse, strong and faced with adverse social circumstances and unacceptable health and wellbeing outcomes wrought by colonisation. The need for strengths-based initiatives that tailor services according to local knowledges is well accepted, yet few studies have evaluated self-determined strategies to redress the social determinants of health.
To explore the training needs of the home care workforce in supporting the social and emotional wellbeing of Aboriginal and Torres Strait Islander peoples receiving aged care services through the Home Care Package Program.
Improving the health of Indigenous adolescents is central to addressing the health inequities faced by Indigenous peoples. To achieve this, it is critical to understand what is needed from the perspectives of Indigenous adolescents themselves. There have been many qualitative studies that capture the perspectives of Indigenous young people, but synthesis of these has been limited to date.
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.
In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted.
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.