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Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

The interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cytometry and in vitro cytokine responses were used to characterize immune profiles from 93 school-aged twin pairs. Using an established twin pair analytical strategy, the genetic and environmental influences on immunological traits were evaluated, along with their association with atopy. Our findings suggest strong genetic influence on several traits, particularly B cell abundance. In contrast, cytokine responses from in vitro stimulations appeared mainly shaped by environmental exposures.

In 2006, when a Japanese scientist building on the earlier work of a British biologist discovered a way to reprogram adult cells into other cell types – making them ‘pluripotent’ – the scientific world was entranced.

Globally, Indigenous peoples have incurred significant harm due to colonisation of their lands. Dispossession of culture, language, family and land, and the historical, systematic removal of children in Australia (the ‘Stolen Generation’), has resulted in evident ongoing negative outcomes in the contemporary lives of Aboriginal and Torres Strait Islander people.

This article describes the survey, the response rates achieved and the representativeness of the sample for the Young Minds Matter survey

Mental disorders should be a leading intervention point for suicide prevention both in the primary health sector and in the mental health sector specifically

The demonstrated higher risks in young people for continued harm or possible death support the need for ongoing initiatives to reduce self-harm

Echocardiographic screening for rheumatic heart disease (RHD) can identify individuals with subclinical disease who could benefit from antibiotic prophylaxis.

This study aims to establish FASD prevalence among sentenced young people in detention in Western Australia (WA)

This study demonstrates the potential use of plasma metabolites to identify causality in children with severe febrile illness in malaria-endemic settings