Skip to content

Search

Good bacteria ally in the fight against Strep A

Innovative research aiming to prevent the spread of Strep A using ‘friendly’ bacteria in the throat has received a $1.5 million boost in the latest round of National Health and Medical Research Council grants.

Study to drive improved long COVID care for CALD communities

Culturally and linguistically diverse (CALD) communities experiencing the ongoing impacts of long COVID are set to benefit from a major new $2 million research project backed by the Federal Government’s Medical Research Future Fund.

Follow-up and Outcomes of Infants Perinatally-exposed to HIV in a Low-prevalence Setting: The Multicenter Children's HIV Exposure Study 2

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.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

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.

Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort

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.

Factors Associated With Rare Pediatric Cancer Trial Enrollment: A Report From the Children's Oncology Group Rare Tumors Committee

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.

The United Nations convention on rare diseases—A framework for research prioritization

Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research

Minimising antibiotic use through prevention of childhood ear infections

Otitis media (OM), or middle ear infection, is one of the most common childhood illnesses globally. In Australia, OM remains a leading cause of antibiotic prescriptions in children, despite growing awareness of antimicrobial resistance (AMR) and the need for stewardship. Preventing OM not only reduces the burden of disease but also plays a critical role in curbing unnecessary antibiotic use and slowing the rise of AMR.

Longitudinal surveillance of group A streptococcal pharyngitis and impetigo in remote Western Australian school children informs acute rheumatic fever prevention

The prevalence of impetigo and pharyngitis - which are both superficial group A streptococcus (GAS) infections that precede acute rheumatic fever - is poorly defined. Guidelines recommend the early diagnosis of both infections to prevent ARF; however, screening to enable the concurrent detection of these infections in high-risk populations has rarely been performed. 

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey

X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.