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Australia’s top 10 rare disease research priorities: a priority setting partnership

The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.

Age-based pegaspargase dosing is safe and achieves therapeutic levels in infants with ALL: report from COG AALL15P1

Rishi S. Kotecha MB ChB (Hons) MRCPCH FRACP PhD Co-Head, Leukaemia Translational Research rishi.kotecha@health.wa.gov.au Co-Head, Leukaemia

‘Feeling like you can't do anything because you don't know where to start’—Parents' Perspectives of Barriers and Facilitators to Accessing Early Detection for Children at Risk of CP

Early detection of cerebral palsy (CP) risk is possible from 12 weeks corrected gestational age (CGA) using standardised assessments; however, up to half of children at risk are not referred early, missing out on early intervention. We investigated the barriers and facilitators to accessing early intervention from the perspective of parents of children who did not receive services by 6 months CGA.

Local government policies restricting unhealthy outdoor food advertising in Australia: stakeholder perspectives identify political willingness is key to overcoming barriers

Unhealthy outdoor food advertising is strongly linked to poor diet, highlighting the need for policies. Western Australian (WA) local governments  can restrict advertising on their owned infrastructure through their Public Health Plans, but limited policy action has occurred. 

Population-specific heterogeneity in ontogeny of the broadly-conserved blood transcriptional program during the first week of life

Previous research has shown that immune development during the first week of life, i.e. ontogeny, is progressive, consistent and robust, involving large numbers of differentially expressed genes at each sampled time point.

Trends in prevalence and predictors of anemia among school-aged children in Tanzania: analysis of 2019–2023 cross-sectional surveys using a multilevel logistic regression model

Anemia constitutes a major global public health challenge among school-aged children with documented impacts on psychomotor development, academic achievement, susceptibility to infections, and long-term economic productivity. This study presents nationally representative findings on the prevalence and determinants of anemia among school children aged 5-16 years in mainland Tanzania.

Suppression of TGF-β/SMAD signaling by an inner nuclear membrane phosphatase complex

Cytokines of the TGF-β superfamily control essential cell fate decisions via receptor regulated SMAD (R-SMAD) transcription factors. Ligand-induced R-SMAD phosphorylation in the cytosol triggers their activation and nuclear accumulation. We determine how R-SMADs are inactivated by dephosphorylation in the cell nucleus to counteract signaling by TGF-β superfamily ligands. 

The overlapping global distribution of dengue, chikungunya, Zika and yellow fever

Arboviruses transmitted mainly by Aedes (Stegomyia) aegypti and Ae. albopictus, including dengue, chikungunya, and Zika viruses, and yellow fever virus in urban settings, pose an escalating global threat. Existing risk maps, often hampered by surveillance biases, may underestimate or misrepresent the true distribution of these diseases and do not incorporate epidemiological similarities despite shared vector species.

A cross-sectional audit of the Australian community food environment highlights the prominent role of chain food outlets

Food retail and food service outlets can be part of a chain, or independently operated. Chain food outlets are likely to have the most influence over community food environments but have not been routinely identified in studies which map and monitor access to food, highlighting an important knowledge gap. This study aimed to identify the food retail and food service outlets present within metropolitan Perth, including presence of chain and independent food outlets; and examine differences across local governments. 

Determining risk features for medulloblastoma in the molecular era

Nick Gottardo MBChB FRACP PhD Co-Head, Brain Tumour Research team; Head of Oncology and Haematology, Perth Children’s Hospital nicholas.gottardo@