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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.

An international cohort study of birth outcomes associated with hospitalized acute respiratory infection during pregnancy

Acute respiratory or febrile illness hospitalization during pregnancy was associated with increased risk of preterm birth and low birthweight birth

A positive feedback loop between alpha1-adrenoceptors and inflammatory cytokines in keratinocytes

Our results suggest that reciprocal influences between alpha1-adrenoceptors and inflammatory cytokines may play a role in normal inflammatory responses

Community-based participatory action research on rheumatic heart disease in an Australian Aboriginal homeland: Evaluation of the ‘On track watch’ project

Based in 'both-way learning', the aim of this study was to co-design, implement and evaluate community-based participatory action research to achieve this vision

Impact of social disadvantage on cerebral palsy severity

In Australia, socio-economic disadvantage at birth impacts adversely on cerebral palsy severity at age 5 years

Local Housing Characteristics Associated with Early Childhood Development Outcomes in Australian Disadvantaged Communities

Access to safe, secure, and stable housing is a well-known social determinant of health

Subjective memory complaints predict baseline but not future cognitive function over three years: Results from the Western Australia Memory Study

Subjective memory complaints individuals present distinctive features of memory complaints as compared to non-memory complainers

Structure-function relationships of the neisserial EptA enzyme responsible for phosphoethanolamine decoration of lipid A: Rationale for drug targeting

This review concentrates on the phosphoethanolamine decoration of lipid A in the pathogenic species of the genus Neisseria

Evaluation of a public education campaign to support parents to reduce adolescent alcohol use

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

Patterns of Alcohol Intake of Pregnant and Lactating Women in Rural Western Australia

This paper will present the first alcohol consumption data of pregnant and breastfeeding women living in rural Western Australia