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There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.
Early childhood is foundational for optimal and inclusive lifelong learning, health and well-being. Young children with disabilities face substantial risks of sub-optimal early childhood development, requiring targeted support to ensure equitable access to lifelong learning opportunities, especially in low- and middle-income countries.
Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
The majority of children acquire language effortlessly but approximately 10% of all children find it difficult especially in the early or preschool years with consequences for many aspects of their subsequent development and experience: literacy, social skills, educational qualifications, mental health and employment.
Time-critical transcriptional events in the immune microenvironment are important for response to immune checkpoint blockade (ICB), yet these events are difficult to characterise and remain incompletely understood. Here, we present whole tumor RNA sequencing data in the context of treatment with ICB in murine models of AB1 mesothelioma and Renca renal cell cancer.
School bullying is a public health concern affecting the physical and mental health of children and young people. While school-based interventions to prevent bullying have been developed internationally, the effectiveness of many interventions has been mixed and modest.
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.
A diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs.
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
Mental health concerns present significant challenges for Australian youth. Arts organizations play a key role in promoting preventative mental health strate-gies through enhancing the social and emotional well-being (SEWB) of youth. However, little is known about how the arts promote SEWB and the processes and contexts through which this occurs.
Medications are commonly used during pregnancy to manage pre-existing conditions and conditions that arise during pregnancy. However, not all medications are safe to use in pregnancy. This study utilized privacy-preserving record linkage (PPRL) to examine medications dispensed under the national Pharmaceutical Benefits Scheme (PBS) to pregnant women in Western Australia (WA) overall and by medication safety category.
Globally, as scale up of early childhood education (ECE) continues, monitoring ECE quality is imperative to promote service aspects that drive positive outcomes for children. Monitoring of ECE quality in low- and middle-income countries (LMICs) is scarce, limited by challenges in varied conceptualisations of quality, lack of measurement tools that reflect local culture and context, and implementation difficulties in low resource settings.
Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.
This study was guided by three research aims: firstly, to examine the longitudinal trends of health-related quality of life (HR-QoL) among gender and sexuality diverse (LGBTQA2S+) young people through adolescence (ages 14-19); secondly, to assess longitudinal associations between poor mental health and HR-QoL among LGBTQA2S+ young people through adolescence; and thirdly, to examine differences in HR-QoL among LGBTQA2S+ young people during early adolescence (ages 14 and 15) depending on select school-, peer-, and parent-level factors.
Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.
School-based nutrition education (NE) has an important role in promoting healthy eating habits and helping prevent chronic diseases – particularly among disadvantaged children and youth who are more likely to experience poor diet quality.
A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and
Student bullying behaviours are a significant social issue in schools worldwide. Whilst school staff have access to quality bullying prevention interventions, schools can face significant challenges implementing the whole-school approach required to address the complexity of these behaviours.
This project provides guidance to help school leaders review the evidence for different programs, as well as a review of universal, evidence-based pre-school and school-based social and emotional learning programs available in Australia.