Search
Research
Consultation informs strategies for improving the use of functional evidence in variant classificationWhen investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
Research
Immune impacts of infant whole-cell and acellular pertussis vaccination on co-administered vaccinesWe compared the effect of a heterologous wP/aP/aP primary series (hereafter mixed wP/aP) versus a homologous aP/aP/aP primary schedule (hereafter aP-only) on antibody responses to co-administered vaccine antigens in infants and toddlers.
Research
Acute rheumatic feverAcute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.
Research
Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.
News & Events
AWESOME ASD guide opens the world of art to kids with autismFor kids on the autism spectrum, it’s not always easy to enjoy art without becoming overwhelmed, overstimulated or anxious.
News & Events
Aboriginal families at the heart of BHP’s $20m Telethon pledgeBHP has announced a $20 million commitment to Telethon over the next five years to fund a world-first research partnership with Aboriginal families in the Pilbara and Perth.
News & Events
Community bands together to create a brighter future for our kidsTen-year-old Isabelle decided to make and sell loom band bracelets to raise money for The Kids Research Institute Australia.
Research
Measurement of urinary 1-aminopyrene and 1-hydroxypyrene as biomarkers of exposure to diesel particulate matter in gold minersThe concentrations of 1-AP and 1-OHP increased significantly across a 12-hour mining work shift
Research
The Brain Basis of Comorbidity in Neurodevelopmental DisordersThis review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights
Research
Preventive medicine for person, place, and planet: Revisiting the concept of high-level wellness in the planetary health paradigmHere, we discuss the relevance of planetary health in the era of personalized medicine, gross environmental concerns, and a crisis of non-communicable diseases