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Personalised analytics propel rare disease diagnoses

The Kids Research Institute Australia researchers are at the forefront of rapid improvements in the diagnosis of rare diseases.

C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

Dynamic molecular changes during the first week of human life follow a robust developmental trajectory

Systems biology and innovative data integration can provide fresh insights into the molecular ontogeny of the first week of life

The Brain Basis of Comorbidity in Neurodevelopmental Disorders

This review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights

Temporal trends and socioeconomic differences in acute respiratory infection hospitalisations in children: an intercountry comparison of birth cohort studies

Admissions for ARI were higher in Western Australia and displayed greater socioeconomic disparities than England and Scotland, where ARI rates are increasing

Intraoperative neurophysiology monitoring in scoliosis surgery in children

Our study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Preventive medicine for person, place, and planet: Revisiting the concept of high-level wellness in the planetary health paradigm

Here, we discuss the relevance of planetary health in the era of personalized medicine, gross environmental concerns, and a crisis of non-communicable diseases

Potential for molecular testing for group a streptococcus to improve diagnosis and management in a high-risk population: A prospective study

Implementation of molecular testing could improve antibiotic use in this high-burden setting

Early childhood education and child development in four countries in East Asia and the Pacific

Results indicate that early childhood education is beneficial for children's early development