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Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western AustraliaWe have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.
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Maternal Allergic Disease Phenotype and Infant Birth Season Influence the Human Milk MicrobiomeEarly infancy is a critical period for immune development. In addition to being the primary food source during early infancy, human milk also provides multiple bioactive components that shape the infant gut microbiome and immune system and provides a constant source of exposure to maternal microbiota. Given the potential interplay between allergic diseases and the human microbiome, this study aimed to characterise the milk microbiome of allergic mothers.
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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 ProtocolExercise 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.
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Information overload and parental perspectives on information provided to parents/carers of paediatric patients undergoing elective surgical proceduresWhen 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.
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Preoperative preparation of children with upper respiratory tract infection: a focussed narrative reviewThis 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.
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An Aboriginal and Torres Strait Islander adolescent model of primary health carePete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor
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4CMenB Breadth of Immune Response, Immunogenicity, and Safety: Results from a Phase 3 Randomized, Controlled, Observer Blind Study in Adolescents and Young AdultsMeningococcal serogroup B (MenB) strains are highly diverse. Breadth of immune response for the MenB vaccine, 4CMenB, administered at 0-2, 0-6, or 0-2-6 months, was demonstrated by endogenous complement-human serum bactericidal antibody (enc-hSBA) assay against an epidemiologically relevant panel of 110 MenB strains.
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Relationships between social determinants of health and healthy body composition among Aboriginal and Torres Strait Islander youth in the Next Generation: Youth Well-being studyPete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor
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Sexuality and Gender Diversity Among Adolescents in Australia, 2019-2021Sexuality- and gender-diverse (SGD) young people experience substantial health disparities relative to cisgender heterosexual peers. Little is known about SGD adolescents younger than 15 years.
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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryThe 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.