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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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Romidepsin enhances the efficacy of cytarabine in vivo, revealing HDAC inhibition as a therapeutic strategy for KMT2A-rearranged acute lymphoblastic leukemiaIn this study, we investigate the in vivo synergy between romidepsin and cytarabine
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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
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Poverty, Parental Mental Health and Child/Adolescent Mental Disorders: Findings from a National Australian SurveyThe purpose of this study is to examine the association between poverty and child mental disorders
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Preterm birth: Born too soon for the developing airway epitheliumThis review examines the consequences of preterm birth on the airway epithelium and explores the clinical relevance of currently available models
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Clinical Ecology-Transforming 21st-Century Medicine with Planetary Health in MindThe grand, interconnected challenges of our time demands that all of medicine be viewed from an ecological perspective
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Apgar score and risk of autismThis study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
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Baseline incidence of adverse birth outcomes and infant influenza and pertussis hospitalisations prior to the introduction of influenza and pertussis vaccinationThese baseline data are essential to assess the safety and effectiveness of influenza and pertussis vaccinations in pregnant women from the NT
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Group A Streptococcus co-ordinates manganese import and iron efflux in response to hydrogen peroxide stressHere, we demonstrate that group A Streptococcus (GAS) utilises Mn(II) import via MtsABC during conditions of hydrogen peroxide stress
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Features of the metabolic syndrome in late adolescence are associated with impaired testicular function at 20 years of ageAdolescents with features of metabolic disorder or insulin resistance show impaired testicular function and altered hormone levels