Search

Research

Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.

Research

High-flow nasal oxygen (HFNO) is frequently used in hospitals, producing droplets and aerosols that could transmit SARS-CoV-2. Our aim was to determine if a headbox could reduce droplet and aerosol transmission from patients requiring HFNO.

Research

We report a role for the mitochondrial single-stranded DNA binding protein (mtSSB) in regulating mitochondrial DNA (mtDNA) replication initiation in mammalian mitochondria. Transcription from the light-strand promoter (LSP) is required both for gene expression and for generating the RNA primers needed for initiation of mtDNA synthesis.

Research

Emerging evidence supports the physical health and social benefits of dog ownership. This study examined the longitudinal effect of dog ownership and dog walking on mental health.

Research

Study question: Do the epigenome-wide DNA methylation profiles of adolescents born from ART differ from the epigenome of naturally conceived counterparts? Summary answer: No significant differences in the DNA methylation profiles of adolescents born from ART [IVF or ICSI] were observed when compared to their naturally conceived, similar aged counterparts.

Research

This article explores why governments do not respond to public compliance problems in a timely manner with appropriate instruments, and the consequences of their failure to do so. Utilising a case study of Italian vaccination policy, the article considers counterfactuals and the challenges of governing health policy in an age of disinformation. It counterposes two methods of governing vaccination compliance: discipline, which uses public institutions to inculcate the population with favourable attitudes and practices, and modulation, which uses access to public institutions as a form of control.

Research

Type 1 diabetes presents significant challenges for optimal management. Despite intensive glycaemic control being the standard of care for several decades, glycaemic targets are infrequently achieved and the burden of complications remains high. Therefore, the advancement of diabetes management technologies has a major role in reducing the clinical and economic impact of the disease on people living with type 1 diabetes and on health care systems.

Research

There is limited evidence on the impact of parental mental health problems on offspring’s educational outcomes. We investigated the impact of maternal anxiety and depressive symptoms, as well as paternal emotional problems on the educational outcomes of their adolescent and young adult offspring.

Research

Skin cancer prevention efforts in Australia have increasingly incorporated a focus on protection during incidental sun exposure. This complements the long-present messages promoting protection in high-risk settings and avoidance of acute intense bouts of sun exposure.

Research

The aim of this study was to assess the pharmacokinetic properties of artemether, lumefantrine and their active metabolites in Plasmodium knowlesi malaria.