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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translationThe number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.
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Reliability of the Commonly Used and Newly-Developed Autism MeasuresThe aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments.
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Nature Connection: Providing a Pathway from Personal to Planetary HealthThe vast and growing challenges for human health and all life on Earth require urgent and deep structural changes to the way in which we live. Broken relationships with nature are at the core of both the modern health crisis and the erosion of planetary health. A declining connection to nature has been implicated in the exploitative attitudes that underpin the degradation of both physical and social environments and almost all aspects of personal physical, mental, and spiritual health.
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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq dataMachine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.
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Western Australia remote aeromedical substance use disorders outcomesSubstance use disorders (SUDs) cause significant harm to regional Australians, who are more likely to misuse alcohol and other drugs (AODs) and encounter difficulty in accessing treatment services. The primary aims of this study were to describe the demographics of patients aeromedically retrieved from regional locations and compare hospital outcomes with a metropolitan-based cohort.
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Culturally supported health promotion to See, Treat, Prevent (SToP) skin infections in Aboriginal children living in the Kimberley region of Western Australia: a qualitative analysisWhile there are many skin infections, reducing the burden of scabies and impetigo for remote living Aboriginal people, particularly children remains challenging. Aboriginal children living in remote communities have experienced the highest reported rate of impetigo in the world and are 15 times more likely to be admitted to hospital with a skin infection compared to non-Aboriginal children.
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Invasive Infections Caused by Lancefield Groups C/G and A Streptococcus, Western Australia, Australia, 2000–2018Epidemiologic data on invasive group C/G Streptococcus (iGCGS) infections are sparse internationally. Linked population-level hospital, pathology, and death data were used to describe the disease burden in Western Australia, Australia, during 2000-2018 compared with that of invasive group A Streptococcus (GAS, Streptococcus pyogenes) infections.
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The burden of atopic dermatitis and bacterial skin infections among urban-living Indigenous children and young people in high-income countries: A systematic reviewA high burden of bacterial skin infections is well documented in remote-living Indigenous children and young people in high-income countries.
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Anoctamins and Calcium Signalling: An Obstacle to EGFR Targeted Therapy in Glioblastoma?Glioblastoma is the most common form of high-grade glioma in adults and has a poor survival rate with very limited treatment options. There have been no significant advancements in glioblastoma treatment in over 30 years. Epidermal growth factor receptor is upregulated in most glioblastoma tumours and, therefore, has been a drug target in recent targeted therapy clinical trials.
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Discovery of 42 genome-wide significant loci associated with dyslexiaReading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found.