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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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A platform in the use of medicines to treat chronic hepatitis C (PLATINUM C): protocol for a prospective treatment registry of real-world outcomes for hepatitis C

Safe, highly curative, short course, direct acting antiviral (DAA) therapies are now available to treat chronic hepatitis C. DAA therapy is freely available to all adults chronically infected with the hepatitis C virus (HCV) in Australia. If left untreated, hepatitis C may lead to progressive hepatic fibrosis, cirrhosis and hepatocellular carcinoma.

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Preparing for Life: Plasma Proteome Changes and Immune System Development During the First Week of Human Life

Neonates have heightened susceptibility to infections. The biological mechanisms are incompletely understood but thought to be related to age-specific adaptations in immunity due to resource constraints during immune system development and growth. We present here an extended analysis of our proteomics study of peripheral blood-plasma from a study of healthy full-term newborns delivered vaginally, collected at the day of birth and on day of life (DOL) 1, 3, or 7, to cover the first week of life. The plasma proteome was characterized by LC-MS using our established 96-well plate format plasma proteomics platform.

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Molecular characterization of Der p 10: A diagnostic marker for broad sensitization in house dust mite allergy

Tropomyosins represent clinically relevant seafood allergens but the role of mite tropomyosin

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CD4 allergen tetramers

The introduction of class II tetramers for identifying antigen-binding CD41 cells has lagged behind the use of class I tetramers because of difficulties...

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Immunodominant T-cell epitopes in the VP1 capsid protein of rhinovirus species A and C

Our results indicate a dissociation between the antibody and T-cell responses to rhinoviruses

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The Western Environment Reduces Innate Immune Cytokine Production in Chinese Immigrants

We recruited age- and sex-matched Chinese immigrants living in Western Australia for less than 6 months (newly arrived, n = 22) or more than 5 years.

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WHO/IUIS Allergen Nomenclature: Providing a common language

Aim was to standardize the names given to the antigens (allergens) that caused IgE-mediated allergies in humans

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Effect of amino acid polymorphisms of house dust mite Der p 2 variants on allergic sensitization

Measures of allergic sensitization and therapeutic strategies could be optimized with knowledge of Der p 2 variants

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Analysis of IgE binding patterns to house dust mite allergens in scabies-endemic communities: insights for both diseases

This study analysed the IgE binding patterns caused by house dust mite allergens in scabies endemic communities in Australia.