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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Assessing The Validity Of A Culturally Modified Drinking Motives Questionnaire For Use In Aboriginal Communities

Alcohol related harms disproportionately affect Aboriginal people in Australia. Motives to drink have been identified as the most proximal factor to alcohol consumption.The aim of this study is to assess the validity of a culturally modified Drinking Motives Questionnaire-Revised (DMQ-R) (Cooper, 1994) with Aboriginal participants. The study was cross sectional, utilising data collected via face-to-face surveys with a sample of adult Aboriginal participants.

Defining the molecular features of radiation-induced glioma: A systematic review and meta-analysis

Cranial radiation therapy is essential in treating many pediatric cancers, especially brain tumors; however, its use comes with the risk of developing second malignancies. Cranial radiation-induced gliomas (RIGs) are aggressive high-grade tumors with a dismal prognosis, for which no standard therapy exists. A definitive molecular signature for RIGs has not yet been established. We sought to address this gap by performing a systematic review and meta-analysis of the molecular features of cranial RIGs.

A reduction in reported alcohol use in pregnancy in Australian Aboriginal communities: a prevention campaign showing promise

Glenn Martyn Pearson Symons BA (Education) PhD Candidate B.A. (Hons) PhD. Director of First Nations Strategy and Leadership; Head, First Nations

RE-AIM evaluation of a teacher-delivered programme to improve the self-regulation of children attending Australian Aboriginal community primary schools

Benefits in teaching the Alert Program® to students in a region with high reported rates of foetal alcohol spectrum disorder and self-regulation impairment

The impact of new universal child influenza programs in Australia: Vaccine coverage, effectiveness and disease epidemiology in hospitalised children in 2018

A significant reduction in severe influenza was observed in Australian children, possibly contributed to by improved vaccine coverage and high vaccine effectiveness

Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion

We found transient pDC depletion during Pneumovirus infection alone predisposed to severe bronchiolitis in early life and subsequent asthma after reinfection.

Prevalence and correlates of bullying victimisation and perpetration in a nationally representative sample of Australian youth

The current findings showed that involvement in any bullying behaviour was associated with increased risk of concurrent mental health problems

Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

New insights into diabetes in Australian Aboriginal population

The Kids Research Institute Australia have shown that genetic variations that influence BMI and diabetes are similar to those in non-Aboriginal populations.