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Research

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.

Research

Scabies is an important predisposing factor for impetigo but its role in more serious skin and soft tissue infections (SSTIs) is not well understood. Information is limited on incidence of SSTIs in the presence of endemic scabies. We conducted a prospective study of hospital admissions for SSTIs in the Northern Division of Fiji (population: 131,914). Prospective surveillance for admissions with impetigo, abscess, cellulitis, wound infection, pyomyositis, necrotizing fasciitis, infected scabies, and crusted scabies was conducted at the Division's referral hospital between 2018 to 2019. Information was collected on demographic characteristics, clinical features, microbiology, treatment and outcomes.

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We outline a series of research initiatives to improve identification of RHD in administrative data thereby contributing to monitoring the RHD burden globally

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This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder

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The ANZCHOG-BN is a new biobank network in Australasia that was developed to improve and streamline access to high-quality pediatric and AYA cancer biospecimens

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This study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder

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Globally and even in high-income countries where a balanced diet is generally accessible, an inadequate maternal micronutrient status is common

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Findings suggest Australian supermarket CSR policies are not likely to adequately contribute to improving population diets or sustainability of food systems

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Adolescents with features of metabolic disorder or insulin resistance show impaired testicular function and altered hormone levels

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Findings suggest that the use of an online expert video is an acceptable and effective way to educate pregnant women in antenatal colostrum expression