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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.

Tapasin assembly surveillance by the RNF185/Membralin ubiquitin ligase complex regulates MHC-I surface expression

Immune surveillance by cytotoxic T cells eliminates tumor cells and cells infected by intracellular pathogens. This process relies on the presentation of antigenic peptides by Major Histocompatibility Complex class I (MHC-I) at the cell surface. The loading of these peptides onto MHC-I depends on the peptide loading complex (PLC) at the endoplasmic reticulum (ER).

Pattern of hospital admissions and costs associated with acute rheumatic fever and rheumatic heart disease in Australia, 2012–2017

This study aims to describe the pattern and trends in acute rheumatic fever (ARF)/rheumatic heart disease (RHD)-related hospitalisations and costs for Australians aged <65 years.  

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. 

Short-Term Active Safety Surveillance of the Spikevax and Nuvaxovid Priming Doses in Australia

Australia commenced administration of the Spikevax (Moderna mRNA-1273) COVID-19 vaccine in August 2021 and Nuvaxovid (Novavax NVX-CoV2373) in January 2022. This study describes the short-term safety profile of priming doses of the Spikevax and Nuvaxovid vaccines given between September 2021 and September 2023. 

Neonatal high-frequency oscillatory ventilation: where are we now?

High-frequency oscillatory ventilation (HFOV) is an established mode of respiratory support in the neonatal intensive care unit. Large clinical trial data is based on first intention use in preterm infants with acute respiratory distress syndrome. Clinical practice has evolved from this narrow population. HFOV is most often reserved for term and preterm infants with severe, and often complex, respiratory failure not responding to conventional modalities of respiratory support.

The Power of Genomics

Due to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on pathology (i.e., what a tumor looks like under the microscope) to thousands of diseases based on molecular tumor profiles (i.e., what a tumor looks like when its altered genome is interrogated). Most cancers arise from alterations to the genome, including changes in the number or structure of chromosomes and variations in a single building block of the genetic code.

Moort dandjoo kaadadjiny: Growing up aboriginal kids strong in their culture and identity

Community Elders in Boorloo (Perth) identified early childhood education (ECE) as a priority area for Aboriginal children’s research. This is due to a lower number of Aboriginal children attending ECE programs compared to non-Aboriginal children. Attending ECE programs sets children up for school success and is an indicator for positive life outcomes in later life. Therefore, we sought to co-design and implement a program that encourages Aboriginal children and families to attend ECE programs, known as Moort Dandjoo Kaadadjiny.

Neighbourhood walkability and body mass index in children: Evidence from the Millennium Cohort Study in Wales

Overweight and obesity in children continues to increase. Yet, the role of active transport, namely walking, in mitigating these trends remains unclear. This study examined the cross-sectional association between walkability and children's Body Mass Index (BMI) and how this varies by socio-economic and lifestyle characteristics.

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.