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Research

Genetic screening technologies to identify and validate macromolecular interactions (MMIs) essential for complex pathways remain an important unmet need for systems biology and therapeutics development. Here, we use a library of peptides from diverse prokaryal genomes to screen MMIs promoting the nuclear relocalization of Forkhead Box O3 (FOXO3a), a tumor suppressor more frequently inactivated by post-translational modification than mutation.

Research

Many countries recommend influenza vaccination during pregnancy. Despite this recommendation, influenza vaccine among pregnant individuals remains under-utilized and uptake varies by country. Factors associated with influenza vaccine uptake during pregnancy may also vary across countries.

Research

A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.

Research

Addressing the recognized challenges and inequalities in providing high quality healthcare for rare diseases such as children's interstitial lung disease (chILD) requires collaboration across institutional, geographical, discipline, and system boundaries. The Children's Interstitial Lung Disease Respiratory Network of Australia and New Zealand (chILDRANZ) is an example of a clinical network that brings together multidisciplinary health professionals for collaboration, peer learning, and advocacy with the goal of improving the diagnosis and management of this group of rare and ultra-rare conditions.

Research

The incidence of mental illness is greatest among young adults, and those enrolled in higher education may be particularly vulnerable compared to the general young adult population. Many higher education institutions employ student support staff tasked with implementing strategies to improve student wellbeing and mental illness.

Research

For children with cerebral palsy (CP), who are marginally ambulant, gross motor capacity peaks between 6 and 7 years of age with a subsequent clinical decline, impacting their ability to engage in physical activity. Active Strides-CP is a novel package of physiotherapy targeting body functions, activity and participation outcomes for children with bilateral CP. This study will compare Active Strides-CP to usual care in a multisite randomised waitlist-controlled trial.

Research

The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing and functional genomics to resolve variants of uncertain significance in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease.

Research

Maternal mental disorders have been associated with adverse perinatal outcomes such as low birthweight and preterm birth, although these links have been examined rarely among Australian Aboriginal populations. We aimed to evaluate the association between maternal mental disorders and adverse perinatal outcomes among Aboriginal births.

Research

Regular physical activity and exercise are important for youth and essential components of a healthy lifestyle. For youth with type 1 diabetes, regular physical activity can promote cardiovascular fitness, bone health, insulin sensitivity, and glucose management. However, the number of youth with type 1 diabetes who regularly meet minimum physical activity guidelines is low, and many encounter barriers to regular physical activity.

Research

Previous research has demonstrated wellbeing benefits for positive education programmes (PEPs) facilitated by clinicians or experts or outside the school context. The current study explored the effects of a Year 10 PEP led by teachers trained in positive education and embedded within the Australian secondary school context.