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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.
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.
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.
Alexander Larcombe BScEnv (Hons) PhD Honorary Research Fellow Honorary Research Fellow Associate Professor Alexander Larcombe began work at The Kids
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.
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.
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.
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.
This prospective cohort study, which recruited participants with definite ARF in Australia and Aotearoa New Zealand, profiled circulating immune molecules and cells to inform disease mechanisms and future druggable pathways.
Parents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.