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Research
A partnership between researchers and breastfeeding advocates to support safe alcohol consumption during breastfeedingAustralian Breastfeeding Association partnership with a breastfeeding researcher to develop an education resource for Australian women on drinking in pregnancy
Research
The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Elevated IL-5 and IL-13 responses to egg proteins predate the introduction of egg in solid foods in infants with eczemaElevated egg-specific Th2 cytokine responses were established prior to egg ingestion at 4months and were not significantly altered by introduction of egg
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The bone marrow microenvironment of pre-B acute lymphoblastic leukemia at single-cell resolutionThe bone marrow microenvironment (BMM) plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression.
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Performance and Practicality of a Rapid Molecular Test for the Diagnosis of Strep A Pharyngitis in a Remote Australian SettingOver 5 days, 120 schoolchildren from two schools in the remote Kimberley region of Australia were screened for Strep A pharyngitis. Molecular point-of-care testing identified Strep A pharyngitis in 13/18 (72.2%) symptomatic children. The portability and feasibility of molecular point-of-care testing was highly practical for remote settings.
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Systems Biology Methods Applied to Blood and Tissue for a Comprehensive Analysis of Immune Response to Hepatitis B Vaccine in AdultsConventional vaccine design has been based on trial-and-error approaches, which have been generally successful. However, there have been some major failures in vaccine development and we still do not have highly effective licensed vaccines for tuberculosis, HIV, respiratory syncytial virus, and other major infections of global significance. Approaches at rational vaccine design have been limited by our understanding of the immune response to vaccination at the molecular level. Tools now exist to undertake in-depth analysis using systems biology approaches, but to be fully realized, studies are required in humans with intensive blood and tissue sampling.
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An observational study of the reactogenicity and immunogenicity of 13-valent pneumococcal conjugate vaccine in women of childbearing age in Papua New GuineaMaternal immunization with pneumococcal conjugate vaccine (PCV) may protect young infants in high-risk settings against the high risk of pneumococcal infections in early life. The aim of this study was to determine the safety and immunogenicity of 13-valent PCV (PCV13) in healthy women of childbearing age in PNG.
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Socioethnic disparities in severe maternal morbidity in Western Australia: a statewide retrospective cohort studyTo assess the scale of ethnic inequalities in severe maternal morbidity (SMM) rates and quantify the contribution of maternal characteristics to these disparities. This is a retrospective cohort study. A whole-of-population linked administrative data from 2002 to 2015 in Western Australia.
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Options and realities for trans and gender diverse young people receiving care in Australia's mental health system: findings from Trans PathwaysTrans and gender diverse young people experience mental health difficulties self-harm and suicidality at markedly higher rates than the general population, yet they often feel isolated from mental health services. There is little qualitative research on the experiences of trans and gender diverse young people accessing mental health support in Australia.