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Research

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.

Research

Monitoring the number of COVID-19 patients in hospital beds was a critical component of Australia's real-time surveillance strategy for the disease. From 2021 to 2023, we produced short-term forecasts of bed occupancy to support public health decision-making. 

Research

The efficacy of chimeric antigen receptor (CAR) T cell therapy in solid tumours is limited by immunosuppression and antigen heterogeneity. To overcome these barriers, 'armoured' CAR T cells, which secrete proinflammatory cytokines, have been developed. However, their clinical application has been limited because of toxicity related to peripheral expression of the armouring transgene. 

Research

BNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.

Research

Although it is well established that youth with type 1 Diabetes (T1D) experience high rates of distress, current clinical care is often under-resourced and unable to provide sufficient or timely psychological support. The current study was designed to evaluate the safety, usability and feasibility of 'COMPASS,' a self-compassion chatbot intervention. 

Research

In Australia, accurate case ascertainment of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) diagnoses for disease surveillance and control purposes requires the use of multiple data sources, including RHD registers and hospitalisation records. Despite drawing on multiple data sources, the true burden of ARF/RHD is likely to be underestimated.

Research

Trans adolescents experience and anticipate stigma to the detriment of their mental health; however, trans adolescents have rarely been consulted about their stigma experiences. This study aimed to understand trans adolescents’ lived experiences of experienced and anticipated stigma.

Research

People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature.

Research

The construct of empowerment is associated with beneficial outcomes in numerous populations with well-being across multiple domains. Within families, empowerment has been found to be related to both parent and child well-being. As such, empowerment appears to be a promising concept to support parents of young (< 18 years) trans and gender diverse children and adolescents; however, what empowerment means for parents of trans children and adolescents is not known.

Research

Pineal parenchymal tumors are rare neoplasms for which evidence-based treatment recommendations are lacking. These tumors vary in biology, clinical characteristics, and prognosis, requiring treatment that ranges from surgical resection alone to intensive multimodal antineoplastic therapy.