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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

The Parents, Young People and Alcohol campaign achieved high awareness and positively influenced parental outcomes

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This study aimed to determine the relationship between ULDCT-ILD and measures of pulmonary function in an asbestos-exposed population.

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Dengue is the most common arboviral disease in the tropical and sub-tropical regions of the world. Like other regions, dengue-endemic areas have faced the additional public health and socio-economic impact of the ongoing coronavirus disease 2019 (COVID-19) pandemic.

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The marine transaminase, P-ω-TA, can be employed for the transamination from 1-aminotetralins and 1-aminoindanes with differentiation of stereochemistry at both the site of reaction and at a remote stereocentre resulting in formation of ketone products with up to 93% ee. While 4-substituents are tolerated on the tetralin core, the presence of 3- or 8-substituents is not tolerated by the transaminase.

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The lack of robust neuroanatomical markers of psychosis risk has been traditionally attributed to heterogeneity. A complementary hypothesis is that variation in neuroanatomical measures in individuals at psychosis risk may be nested within the range observed in healthy individuals. 

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As of January 2021, Australia had effectively controlled local transmission of COVID-19 despite a steady influx of imported cases and several local, but contained, outbreaks in 2020. Throughout 2020, state and territory public health responses were informed by weekly situational reports that included an ensemble forecast of daily COVID-19 cases for each jurisdiction.

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This article aims to critically review the literature on continuous electroencephalography (cEEG) monitoring in the intensive care unit (ICU) from an Australian and New Zealand perspective and provide recommendations for clinicians. Design and review methods: A taskforce of adult and paediatric neurologists, selected by the Epilepsy Society of Australia, reviewed the literature on cEEG for seizure detection in critically ill neonates, children, and adults in the ICU.

Research

There is limited understanding of the challenges experienced and supports required to aid effective advocacy of the Global Action Plan on Physical Activity (GAPPA). The purpose of this study was to assess the challenges experienced and supports needed to advocate for the GAPPA across countries of different income levels.

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Over the past few months, our researchers have zig-zagged the globe to share their type 1 diabetes research at major scientific meetings and conferences.