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Research

Mutational rescue of the activity of high-fidelity Cas9 enzymes

Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications. 

Research

Correlating Quantitative and Genomic SARS-CoV-2 Wastewater Data with Clinical Metrics in Metropolitan Perth, Western Australia

Wastewater-based epidemiology (WBE) has emerged as a key method for the continuous monitoring of COVID-19 prevalence including circulating SARS-CoV-2 lineages. WBE addresses the limitations of traditional clinical COVID-19 surveillance such as clinical test availability, fluctuating testing rates, and increased reliance on rapid antigen tests. 

Research

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. 

Research

Epigenetics of the non-coding RNA nc886 across blood, adipose tissue and skeletal muscle in offspring exposed to diabetes in pregnancy

Diabetes in pregnancy is associated with increased risk of long-term metabolic disease in the offspring, potentially mediated by in utero epigenetic variation. Previously, we identified multiple differentially methylated single CpG sites in offspring of women with gestational diabetes mellitus, but whether stretches of differentially methylated regions can also be identified in adolescent GDM offspring is unknown.

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Community Priorities for Outcomes Targeted During Professional Supports for Autistic Children and their Families

Professional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals.

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The genomic evolutionary dynamics and global circulation patterns of respiratory syncytial virus

Respiratory syncytial virus (RSV) is a leading cause of acute lower respiratory tract infection in young children and the second leading cause of infant death worldwide. While global circulation has been extensively studied for respiratory viruses such as seasonal influenza, and more recently also in great detail for SARS-CoV-2, a lack of global multi-annual sampling of complete RSV genomes limits our understanding of RSV molecular epidemiology.

Research

The Role of Friends in Supporting Young People With Cancer: A Scoping Review

Peers play a crucial role in supporting wellbeing and psychosocial development for young people aged 12-25. However, a cancer experience often leads to challenges maintaining friendships. There have been no prior attempts to map or synthesise available research or resources on support specifically from friends for young people with cancer, limiting the capacity to draw conclusions or determine next steps for how to best support young people with cancer. This review aims to address this gap by mapping and synthesising the available literature and resources.

Research

“We've wanted to vaccinate against it and now we can”: views of respiratory syncytial virus disease and immunisation held by caregivers of Aboriginal children in Perth, Western Australia

Respiratory syncytial virus (RSV) is a major cause of respiratory infection with a higher burden in Aboriginal and Torres Strait Islander infants and children. We conducted a pilot qualitative study identifying disease knowledge and willingness to immunise following the changing immunisation landscape for infant RSV in 2024.

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Natural disasters and the demand for health insurance

Amidst growing concerns over heightened natural disaster risks, this study pioneers an inquiry into the causal impacts of cyclones on the demand for private health insurance in Australia. We amalgamate a nationally representative longitudinal dataset with historical cyclone records, employing an individual fixed effects model to assess the impacts of various exogenously determined cyclone exposure measures.

Research

‘It depends entirely on the nature of those supports’: Community perceptions of the appropriateness of early support services for autistic children

We do not know much about what support services people think are okay for young autistic children. This study was a survey of 253 people. We asked autistic adults, parents, and professionals from Australia and New Zealand whether they thought it was okay to provide support services to autistic children.