Reports and Findings
Research
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipThe 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
Facilitating knowledge transfer during Australia’s COVID-19 vaccine rollout: an examination of ‘Functional Dialogues’ as an approach to bridge the evidence–policy gapOur interdisciplinary team initiated a project to inform the COVID-19 vaccination programme. We developed a novel research co-creation approach to share emerging findings with government.
Research
Virome assembly reveals draft genomes of native Pseudomonas phages isolated from a paediatric bronchoalveolar lavage sampleWe present lung virome data recovered through shotgun metagenomics in bronchoalveolar lavage fluid from an infant with cystic fibrosis, who tested positive for Stenotrophomonas maltophilia infection. Using a bioinformatic pipeline for virus characterization in shotgun metagenomic data, we identified five viral contigs representing Pseudomonas phages classified as Caudoviricetes.
Research
A GWAS for grip strength in cohorts of children-Advantages of analysing young participants for this traitGrip strength is a proxy measure for muscular strength and a predictor for bone fracture risk among other diseases. Previous genome-wide association studies have been conducted in large cohorts of adults focusing on scores collected for the dominant hand, therefore increasing the likelihood of confounding effects by environmental factors.
Research
Child and Family Characteristics Associated with Symptoms of Anxiety in Autistic Children: A Biobank StudyAutistic children have an increased likelihood of anxiety, but more research is needed on the characteristics that predict various types of anxiety in this population.
Research
The parent empowerment scale: development and psychometric propertiesParents of trans and gender diverse (herein ‘trans’) children experience additional challenges in their parenting role relative to parents of cisgender children. Understanding and enhancing parents’ empowerment is a promising approach to support both parents and children. We aimed to develop an empowerment scale specific to parents of trans children, grounded in parents’ lived experiences.
Research
Lived Experiences of Empowerment in Parents of Trans Children and AdolescentsThe construct of empowerment is associated with beneficial outcomes in numerous populations with well-being across multiple domains. Within families, empowerment has been found to be related to both parent and child well-being. As such, empowerment appears to be a promising concept to support parents of young (< 18 years) trans and gender diverse children and adolescents; however, what empowerment means for parents of trans children and adolescents is not known.
Research
Understanding wellbeing from the perspective of youth with chronic conditions: A group concept mapping approachPromoting wellbeing for youth is a global health priority and young people with chronic conditions demonstrate disproportionately low wellbeing compared to their peers. However, wellbeing is variably defined, and little is understood as to what wellbeing means for this population. The aim of this study was to develop a conceptualisation of wellbeing that is rooted in the perspectives of young people with chronic conditions.
Research
The future of paediatric obstructive sleep apnoea assessment: Integrating artificial intelligence, biomarkers, and moreAssessing obstructive sleep apnoea in children involves various methodologies, including sleep studies, nocturnal oximetry, and clinical evaluations. Previous literature has extensively discussed these traditional methods.
Research
Participation and quality of life among Australian children with developmental coordination disorderChildren with Developmental Coordination Disorder (DCD) experience difficulty in the acquisition and performance of movement skills, threatening participation and quality of life. Environmental influences on participation and quality of life were investigated in children with DCD and their neurotypical peers.