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The ORIGINS Project Biobank: A Collaborative Bio Resource for Investigating the Developmental Origins of Health and Disease

Early onset Non-Communicable Diseases (NCDs), including obesity, allergies, and mental ill-health in childhood, present a serious and increasing threat to lifelong health and longevity. The ORIGINS Project (ORIGINS) addresses the urgent need for multidisciplinary efforts to understand the detrimental multisystem impacts of modern environments using well-curated large-scale longitudinal biological sample collections.

What matters for pregnant women with rheumatic heart disease - perspectives of health service providers: A qualitative study

Jonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@

The airway smooth muscle layer is structurally abnormal in low birth weight infants: implications for obstructive disease

Citation: Wang KCW, Elliot JG, Saglani S, et al. The airway smooth muscle layer is structurally abnormal in low birth weight infants: implications

Invasive fungal disease and antifungal prophylaxis in children with acute leukaemia: a multicentre retrospective Australian cohort study

Invasive fungal disease is a common and important complication in children with acute myeloid leukaemia (AML). We describe the epidemiology of IFD in a large multicentre cohort of children with AML.

Acceptability and Implementation Challenges of Benzathine Penicillin G Secondary Prophylaxis for Rheumatic Heart Disease in Ethiopia: A Qualitative Study

Monthly intramuscular injections of benzathine penicillin G (BPG) remain the cornerstone of secondary prophylaxis for acute rheumatic fever and rheumatic heart disease (RHD). The barriers to successful delivery of BPG may be patient- or service-delivery-dependent.

Are we missing opportunities to detect acute rheumatic fever and rheumatic heart disease in hospital care? A multijurisdictional cohort study

This study aimed to investigate potential missed diagnoses of acute rheumatic fever and rheumatic heart disease during hospital-based care among persons subsequently identified with these conditions.

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

The MexTAg collaborative cross: host genetics affects asbestos related disease latency, but has little influence once tumours develop

This study combines two innovative mouse models in a major gene discovery project to assess the influence of host genetics on asbestos related disease (ARD). Conventional genetics studies provided evidence that some susceptibility to mesothelioma is genetic. However, the identification of host modifier genes, the roles they may play, and whether they contribute to disease susceptibility remain unknown.

The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.

Circulating epigenomic biomarkers correspond with kidney disease susceptibility in high-risk populations with type 2 diabetes mellitus

To investigate epigenomic indices of diabetic kidney disease (DKD) susceptibility among high-risk populations with type 2 diabetes mellitus.