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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.

Research

Correlation of ultra-low dose chest CT findings with physiologic measures of asbestosis

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

Science at Home: Make your own microbiome!

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

Research

Use of the Dietary Guideline Index to assess cardiometabolic risk in adolescents

The long-term adherence to the dietary guidelines has not been evaluated against emergence of cardiometabolic risks in adolescents with increasing rates of...

Management

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

News & Events

Farewell Tarini

After nearly two-and-a-half years in sunny Perth, Dr Tarini Chetty is headed back home to Scotland. Before she departs our shores.

Research

Safety and immunogenicity of a meningococcal B bivalent rLP2086 vaccine in healthy toddlers Aged 18-36 months

A bivalent, recombinant, factor H-binding protein (rLP2086) vaccine was developed to protect against invasive Neisseria meningitidis serogroup B (MnB) in...

Research

Evolution of pulmonary inflammation and nutritional status in infants and young children with cystic fibrosis

Improved nutrition is the major proven benefit of newborn screening programmes for cystic fibrosis (CF) and is associated with better clinical outcomes.

Research

Prior human papillomavirus-16/18 AS04-adjuvanted vaccination prevents recurrent high grade cervical intraepithelial neoplasia after definitive surgical therapy

Women who undergo surgical therapy for cervical lesions after vaccination with the HPV-16/18 vaccine may continue to benefit from vaccination

Research

TrialNet: Pathway to Prevention

This study is helping us to learn how type 1 diabetes develop and ways to delay and prevent it.