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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.
To identify factors influencing the completion of a three-dose course of weekly intramuscular benzathine penicillin G injections by adults and adolescents with syphilis of unknown duration or late syphilis.
A lifelong auto-immune condition that can affect anyone, but is most commonly diagnosed in childhood.
Physical activity can support physical and mental health among children living with chronic health conditions; however, programmes must be tailored to their specific needs to support participation.
While parenting self-efficacy and broader autism phenotype (BAP) have been linked to caregiver depression, anxiety and stress at specific points in time, their influence on longer-term mental health trajectories remains unknown, especially for caregivers who participate in support programs for their infants with very-early autistic features.
The developing hippocampus is particularly sensitive to early environmental influences, including during pregnancy. This longitudinal neuroimaging study examined associations between prenatal maternal physical activity and depression, maternal education, and hippocampal development from early childhood to early adolescence.
Discover more about Telethon Kids Institute research.
First Nations women in Australia continue to experience disproportionately adverse maternal and infant outcomes. The ongoing legacy of colonisation and systemic racism shapes these outcomes. In the Australian Capital Territory (ACT), maternity services remain dominated by Western biomedical approaches that fail to deliver culturally safe and anti-racist care despite national standards that mandate such practices.
RSV hospitalises millions of babies worldwide every year: our research is helping to change that.