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Single-cell data combined with phenotypes improves variant interpretation

Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity. 

Surveillance of avian influenza through bird guano in remote regions of the global south to uncover transmission dynamics

Avian influenza viruses (AIVs) pose a growing global health threat, particularly in low- and middle-income countries (LMICs), where limited surveillance capacity and under-resourced healthcare systems hinder timely detection and response. Migratory birds play a significant role in the transboundary spread of AIVs, yet data from key regions along migratory flyways remain sparse. To address these surveillance gaps, we conducted a study between December 2021 and February 2023 using fresh bird guano collected across 10 countries in the Global South.

Planetary health and Indigenous sovereignty: exploring the theory of change of the Healthy Environments and Lives (HEAL) network in Western Australia

This paper outlines the theory of change which underpins the Western Australian (WA) hub of the Healthy Environments and Lives (HEAL) network. HEAL is an Australian national research initiative that aims to address the health impacts of climate and environmental change. The WA hub's theory of change is focused on improving the health and well-being of the planet and people, including children, through centring Indigenous sovereignty, voices and ways of knowing and being in research, policy development and service provision. 

National E-cigarette Monitoring and Evidence Consortium: Supporting informed research, policy and practice in Australia

Alexander Larcombe BScEnv (Hons) PhD Honorary Research Fellow Honorary Research Fellow Associate Professor Alexander Larcombe began work at The Kids

Strategies to Improve Research Participation By Older People With Cognitive Impairment: A Systematic Review

Older people with cognitive impairment are unrepresented in clinical research. Our objective was to review evidence for strategies to support their research inclusion and participation.

Kaat koort: Study protocol for a pragmatic randomized controlled trial of a multifactorial, multidisciplinary Aboriginal Health Practitioner-led Aboriginal dementia prevention intervention

Limited available data indicate that dementia prevalence rates among Aboriginal and Torres Strait Islander (hereafter Aboriginal) peoples are 3–5 times higher than the overall Australian population. Effective, pragmatic and scalable interventions are urgently required to address this disproportionate burden of dementia in Aboriginal populations.

A Multisite Randomized Controlled Trial of Hand Arm Bimanual Intensive Training Including Lower Extremity for Children with Bilateral Cerebral Palsy

To test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy. 

Lifting the wellbeing of adolescents and young adults with type 1 diabetes: A feasibility study of the LIFT app

Adolescents and young adults with type 1 diabetes have an increased risk of psychological distress. To address this, psychological support provided asynchronously via an app may be feasible. Our study aimed to explore feasibility and safety of the LIFT wellbeing app.

Cochlear implantation in children under 12 months of age: surgical outcomes and considerations—a Western Australian perspective

The introduction of universal newborn hearing screening has allowed for early identification and diagnosis of children with severe-profound hearing loss. This study aims to provide the first Western Australian perspective on the surgical feasibility and safety of cochlear implantation before 12 months of age.

Involving young people with lived experience in advancing mental health science: an exploratory qualitative study from Pakistan and India

Meaningful involvement of young People with Lived Experience (PWLE) in co-designing youth mental health interventions has been much emphasized globally. However, there is a scarcity of evidence on involving PWLE of mental health problems in designing, implementing and evaluating mental health interventions, especially in Low- and Middle-Income Countries.