MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or…
Preeclampsia is a hypertensive disorder of pregnancy with major maternal and fetal consequences. While the molecular basis of early-onset preeclampsia is well studied, the mechanisms underlying late-onset disease-and how they differ by fetal sex-rem…
The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health pr…
The understanding of children's social and emotional development in middle childhood is critical to promote well-being throughout the life course. Children who fail to develop social and emotional competencies are more likely to experience difficult…
Ambient heat exposure during pregnancy is associated with adverse outcomes, and adverse neurodevelopmental outcomes are an emerging concern. This scoping review synthesises human and animal evidence on the association between prenatal ambient heat e…
Hereditary pancreatitis causes severe early-onset pain and hospitalisation. In 15 Australian patients undergoing total pancreatectomy and islet auto transplantation (TPIAT), we observed a marked reduction in hospital admissions, inpatient days and e…
The success of cancer immunotherapies has highlighted the importance of monitoring the anti-tumour T cell response. Patients with mesothelioma frequently present with a malignant pleural effusion (MPE) that is commonly drained regularly to alleviate…
Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs is essential for improving children's health and developing effective support. In this study we aime…
Evaluate the effectiveness of training workshops aiming to improve researchers' consumer and community involvement (CCI) related awareness, attitudes, and behaviours, and capture remaining barriers to CCI.
Antibiotic exposure in neonatal intensive care units (NICU) is high. This study describes antibiotic use in very preterm infants and examines the association between duration of exposure and outcomes in blood culture negative (CN) infants.