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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.

Variation in nutrition education practices in SWEET pediatric diabetes centers-an international comparison

Nutrition education is central to pediatric type 1 diabetes management. Dietary management guidelines for type 1 diabetes are evidence based, but implementation may be challenging and inconsistent. We describe variation in the practice of nutrition education across pediatric diabetes centers globally and explore associations with A1c and BMI.

Cohort profile: Pregnancy and childhood epigenetics (PACE) consortium

The PACE Consortium represents the first steps in the discovery of the role of DNA methylation in health and disease

Induced sputum to detect lung pathogens in young children with cystic fibrosis

we aimed to determine the sensitivity and specificity of induced sputum with and without airway clearance techniques to detect lower airway pathogens in kids.

Here's to one year at Perth Children's Hospital

It's The Kids Research Institute Australia's first anniversary within Perth Children’s Hospital

Prevention - what is the most promising approach?

This paper is an editorial comment by Professor Patrick Holt on the potential for developing early intervention strategies in children with allergies and asthma

Bacillus Cereus Bacteremia and Multiple Brain Abscesses During Acute Lymphoblastic Leukemia Induction Therapy

Bacillus cereus can cause serious infections in immunosuppressed patients. This population may be susceptible to B. cereus pneumonia, bacteremia, cellulitis,...

Linking lung function and inflammatory responses in ventilator-induced lung injury

Despite decades of research, the mechanisms of ventilator-induced lung injury are poorly understood...

Early immunological influences on asthma development: opportunities for early intervention

The developing immune system and allergy