Reports and Findings
Research
Consultation informs strategies for improving the use of functional evidence in variant classificationWhen investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
Research
What helps cardiac patients exercise after treatment, and when? Understanding physical activity and exercise participation following exercise-based cardiac rehabilitationDespite evidence suggesting regular exercise (i.e. structured, repetitive and purposeful physical activity) attenuates cardiac patients’ decline in health, our understanding of factors affecting long-term exercise participation among this patient cohort is limited. This problem is pertinent, given that less than half of cardiac patients adhere to exercise following discharge from formal exercise-based rehabilitation programmes. In this study, we explored factors influencing exercise participation after an outpatient cardiac rehabilitation programme.
Research
Single-cell data combined with phenotypes improves variant interpretationWhole 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.
Research
Incidence of cognitive errors in difficult airway management: an inference human factors study from the Pediatric Difficult Intubation RegistryCognitive errors are known contributors to poor decision-making in healthcare. However, their incidence and extent of their contribution to negative outcomes during difficult airway management are unknown. We aimed to identify cognitive errors during paediatric difficult airway management using data from the Pediatric Difficult Intubation (PeDI) registry, to determine patient and clinician factors associated with these errors, and their contribution to complications.
Research
Surveillance of avian influenza through bird guano in remote regions of the global south to uncover transmission dynamicsAvian influenza viruses (AIVs) pose a growing global health threat, particularly in low- and middle-income countries (LMICs), where limited surveillance capacity and under-resourced healthcare systems hinder timely detection and response. Migratory birds play a significant role in the transboundary spread of AIVs, yet data from key regions along migratory flyways remain sparse. To address these surveillance gaps, we conducted a study between December 2021 and February 2023 using fresh bird guano collected across 10 countries in the Global South.
Research
Combination of curcumin or chitosan with photodynamic therapy as an effective alternative therapy for overcoming wound infection associated with multidrug-resistant Acinetobacter baumanniiThe increasing prevalence of multidrug-resistant Acinetobacter baumannii as an opportunistic pathogen in wound infections raises significant concerns due to its antibiotic resistance and biofilm-mediated antibiotic tolerance. This underscores the urgent need to explore an alternative approach to effectively managing wound infections caused by MDR A. baumannii.
Research
“Society really does not like people with psychosis”: A thematic analysis of the stigma and self-stigma experiences of young people at-risk for psychosisStigma and self-stigma reduce self-esteem and increase hopelessness and suicidality. While psychotic disorders are widely recognized as the most stigmatizing of all mental health disorders, there is a dearth of research investigating how stigma and self-stigma are experienced by young people at ultra-high risk (UHR) for psychosis.
Research
Parental work schedules and hours from a cross-national perspective: a welfare regime analysis on 29 countriesTechnological advances have transformed when and for how long individuals work, a process associated with increasing polarization and precarity. Using the European Working Conditions Survey (2005-2015), we examined parental work schedules and hours across welfare regimes covering 29 European countries.
Research
High dose, subcutaneous injections of benzathine penicillin G (SCIP) to prevent rheumatic fever: A single arm, phase IIa trial of safety and pharmacokineticsThis Phase-IIa trial evaluates the safety and pharmacokinetics of high-dose, 10 weekly subcutaneous injections of penicillin (SCIP) in young people with a history of acute rheumatic fever (ARF).
Research
E-cigarette use among gender and sexuality diverse (LGBTQA+) adolescents in Australia: The case for LGBTQA+ affirmative harm reductionThis study aimed to provide a first-ever comprehensive epidemiology of vaping behaviours among Australian gender and sexuality diverse (LGBTQA+) youth.