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Research

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.

Research

Information overload and parental perspectives on information provided to parents/carers of paediatric patients undergoing elective surgical procedures

When parents are expected to play a significant role in the management of their children's health perioperatively, information overload for parents could have particularly detrimental consequences. Our study investigated information communication and overload in 380 parents of children undergoing any elective surgical procedure at our institution. 

Research

Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A Protocol

Exercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.

Research

An Aboriginal and Torres Strait Islander adolescent model of primary health care

Pete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor

Research

Preoperative preparation of children with upper respiratory tract infection: a focussed narrative review

This review summarises the current evidence for the perioperative preparation in children with upper respiratory tract infections (URTI), including COVID-19 infection. URTI, including COVID-19 infection, are common and frequent in children who present for elective surgery. Children with URTI are at increased risk of perioperative respiratory adverse events.

Research

Relationships between social determinants of health and healthy body composition among Aboriginal and Torres Strait Islander youth in the Next Generation: Youth Well-being study

Pete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor

Research

Pathways of Socioeconomic Disadvantage and Peer Bullying in Children and Youth: A Scoping Review

Growing up in socioeconomic disadvantage increases risk of peer bullying at school. Both socioeconomic status and involvement in bullying are predictive of a range of adverse developmental outcomes. However, neither (a) the mechanisms whereby disadvantage increases bullying risk nor (b) the developmental outcomes for which bullying may mediate disadvantage are clear. 

Research

Higher maternal bread and thiamine intakes are associated with increased infant allergic disease

A mother's diet during pregnancy may influence her infant's immune development. However, as potential interactions between components of our dietary intakes can make any nutritional analysis complex, here we took a multi-component dietary analysis approach.

Research

Early moderate prenatal alcohol exposure and maternal diet impact offspring DNA methylation across species

Alcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure resembling common patterns of alcohol consumption in pregnancy in humans. 

Research

Cancer Cell Biology Research in an Indigenous Childhood Cancer Context

In Australia, cancer medicine is increasingly guided by our expanding knowledge of cancer genomics (the study of genetic information) and biology. Personalized treatments and targets are often defined by an individual’s genetic profile—known as precision cancer medicine. The translation of genomics-guided precision therapeutics from bench to bedside is beginning to produce real clinical benefits for Australians living with cancer.