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Research

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

Advances 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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Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research

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Pets Are Associated with Fewer Peer Problems and Emotional Symptoms, and Better Prosocial Behavior: Findings from the Longitudinal Study of Australian Children

Pets may protect children from developing social-emotional problems and should be taken into account when assessing child development and school readiness

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Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life

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Prebiotics: mechanisms and preventive effects in allergy

In this review, we describe both the mechanisms and the therapeutic evidence from preclinical and clinical studies exploring the role of prebiotics in allergy prevention

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Attitudes about and access to influenza vaccination experienced by parents of children hospitalised for influenza in Australia

Improving parents’ and providers’ knowledge and confidence in influenza vaccination safety, efficacy, and benefits should be prioritised

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Preterm birth: Born too soon for the developing airway epithelium

This review examines the consequences of preterm birth on the airway epithelium and explores the clinical relevance of currently available models

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Impact of Childhood Pneumococcal Conjugate Vaccine on Nonnotified Clinically Suspected Invasive Pneumococcal Disease in Australia

This study provides a quantitative estimate of the total burden of invasive pneumococcal disease preventable by vaccination programs in Australia

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The pervasive effects of timing of parental mental health disorders on adolescent deliberate self-harm risk

This study shows that timing is important for understanding intergenerational transmission of deliberate self-harm risk

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Exposure to Solar UVR Suppresses Cell-Mediated Immunization Responses in Humans: The Australian Ultraviolet Radiation and Immunity Study

Higher UVR exposure at antigen sensitization was associated with a reduced delayed-type hypersensitivity response and altered T helper type 17 kinetics