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Research

The course and prognostic capability of motor difficulties in infants showing early signs of autism

Delays within the motor domain are often overlooked as an early surveillance marker for autism. The present study evaluated motor difficulties and its potential as an early predictive marker for later autism likelihood in a cohort of infants showing early behavioral signs of autism aged 9-14 months. The motor domain was evaluated using the motor subscales of the Mullen Scales of Early Learning at baseline, and at a 6-month follow-up.

Research

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Effectiveness of a 3 + 0 pneumococcal conjugate vaccine schedule against invasive pneumococcal disease among a birth cohort of 1.4 million children in Australia

Our population-based cohort study demonstrates that >90% coverage in the first year of a universal 3 + 0 PCV program provided high population-level protection

Research

A randomised controlled trial of an iPad-based application to complement early behavioural intervention in Autism Spectrum Disorder

Technology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD

Research

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

Research

Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries

These summary measures can also be used to quantify the component of variation in epidemiology that is related to sociodemographic development.

News & Events

Four BrightSpark Fellowships awarded to early-career researchers at The Kids

Congratulations to four outstanding early-career researchers from The Kids Research Institute Australia, who have been awarded BrightSpark Foundation fellowships and project funding for 2026.

Revolutionising diabetes management for children and families

Imagine living with a condition that requires you to make approximately 180 health- related decisions every day for the rest of your life.

Research

Mitochondrial damage in muscle specific PolG mutant mice activates the integrated stress response and disrupts the mitochondrial folate cycle

During mitochondrial damage, information is relayed between the mitochondria and nucleus to coordinate precise responses to preserve cellular health. One such pathway is the mitochondrial integrated stress response (mtISR), which is known to be activated by mitochondrial DNA (mtDNA) damage. However, the causal molecular signals responsible for activation of the mtISR remain mostly unknown.

Research

Research priorities for preterm lung health research across the lifespan: a community priority setting partnership

It is essential to embed patient and public perspectives into every stage of the research journey, including setting the future research agenda. The substantial gaps in our understanding of prematurity-associated lung disease presented a timely opportunity to determine the community's research priorities.