Reports and Findings
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research prioritization. Front Public Health. 2025;13. Keywords: Orphan drug; rare disease (RD); rare disease diagnosis;
Chemotherapy often kills a large fraction of cancer cells but leaves behind a small population of drug-tolerant persister cells. These persister cells survive drug treatments through reversible, non-genetic mechanisms and cause tumour recurrence upon cessation of therapy. Here, we report a drug tolerance mechanism regulated by the germ-cell-specific H3K4 methyltransferase PRDM9.
Antimicrobial resistance poses a significant threat to children's health, with up to 20% of 1.27 million deaths attributable to bacterial AMR annually, occurring in children <5 years. The WHO 2024 Bacterial Priority Pathogens List identifies methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant Enterococcus faecium (VRE) as critical pathogens. This review examines the epidemiology, treatment recommendations, dosing strategies, efficacy, and safety data for antibiotics targeting MRSA and VRE infections in children in Oceania.
Limited evidence suggests that airway epithelial structure and function is disrupted in very preterm infants; however, the epithelial morphology and physiology has not been well characterised following discharge from neonatal intensive care. This study aimed to characterise the nasal airway epithelium from 1-year-old survivors of very preterm birth.
Over 90% of US children with cancer are treated at Children's Oncology Group (COG) centers, which seek to maximize enrollment in therapeutic and biobanking studies. Rare cancers have demonstrated lower than expected COG enrollment. We evaluated trends in COG rare cancer enrollment compared to US incidence from Surveillance, Epidemiology, and End Results (SEER) registries, examining the impact of COG therapeutic trials and Project:EveryChild, a cancer biobank/registry.
Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.
To translate and validate the HLS-Child-Q15, a relatively short questionnaire for assessing health literacy in children originally validated in German, into English to make it accessible to a large population of English-speaking children.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
Despite evidence documenting high prevalence of type 2 diabetes among several Indigenous populations, a comprehensive systematic review of type 2 diabetes among global Indigenous Peoples has not been recently conducted. Our aim was to report region-, time-, age- and sex-specific type 2 diabetes prevalence among Indigenous adult populations globally.
To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence. This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.