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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

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

Research

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

Read about the management staff of the Children's Diabetes Centre, Dr Charles Czank and Nirubasini Paramalingam.

Make your very own unique microbiome using a range of textured items designed to be squeezed and squished.

Explore some of the frequently asked questions that The C3 Study receives.

Research

Type 1 diabetes in First Nations peoples is low yet type 2 diabetes is at epidemic proportions. This study aimed to determine the prevalence of islet autoimmunity in First Nations women with dysglycaemia and its association with clinical features.

Research

The current study aimed to provide a comprehensive appraisal of the current evidence on the effectiveness of Pivotal Response Training (PRT) for individuals with autism spectrum disorder (ASD) and to explore predictors of treatment response.

Research

Vitamin D deficiency (serum 25-hydroxyvitamin D (25(OH)D) concentration <50 nmol/l) is recognised as a public health problem globally. The present study details the prevalence and predictors of vitamin D deficiency in a nationally representative sample (n 3250) of Australian Aboriginal and Torres Strait Islander adults aged ≥18 years. We used data from the 2012-2013 Australian Aboriginal and Torres Strait Islander Health Survey (AATSIHS). Serum 25(OH)D concentrations were measured by liquid chromatography-tandem MS.

Research

This study finds that the EDI shows moderate validity and reliability in poor communities in Indonesia and highlights some of the difficulties associated with adapting western instruments for non-western cultures and contexts.