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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsAdvances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
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Antibiotic appropriateness and guideline adherence in hospitalized children: results of a nationwide studyInappropriate antimicrobial prescribing in children was linked to specific risk factors, presenting opportunities for targeted interventions to improve prescribing
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Fetal alcohol spectrum disorder: the importance of assessment, diagnosis and support in the Australian justice contextThe current article outlines how individuals with fetal alcohol spectrum disorder may experience inequities within the justice system
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Meningococcal B vaccine and meningococcal carriage in adolescents in AustraliaAmong Australian adolescents, the 4CMenB vaccine had no discernible effect on the carriage of disease-causing meningococci, including group B
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Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational ageWe identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues
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A structure-function analysis of interspecies antagonism by the 2-heptyl-4-alkyl-quinolone signal molecule from Pseudomonas aeruginosaHere we show that antibacterial activity of 4-hydroxy-2-heptylquinoline against Vibrionaceae is species-specific
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PTPN2 phosphatase deletion in T cells promotes anti-tumour immunity and CAR T-cell efficacy in solid tumoursOur findings define PTPN2 as a target for bolstering T-cell-mediated anti-tumour immunity and CAR T-cell therapy against solid tumours.
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Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial diseaseWe report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease
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Genome mining and characterisation of a novel transaminase with remote stereoselectivityHere we report a novel ω-transaminase discovered in a marine sponge Pseudovibrio sp. isolate
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Incidence and survival for childhood central nervous system tumours in Australia, 1983–2016To investigate incidence and survival of childhood tumours of the central nervous system (CNS) by histological subtype, tumour behaviour and tumour grade. Methods: National, population-based data on all children under 15 years old diagnosed with a CNS tumour between 1983 and 2016 were sourced from the Australian Childhood Cancer Registry. Incidence rate trends were calculated using Joinpoint regression.