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The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.
News & Events
Generous new funding to fast-track rare disease diagnosis and unlock new treatmentsResearch that screens novel genetic variants identified in disease will be fast-tracked by a funding boost, offering new hope of an early diagnosis for families of children with a rare or undiagnosed genetic disease.
Research
Pediatric Burn Survivors Have Long-Term Immune Dysfunction With Diminished Vaccine ResponseEpidemiological studies have demonstrated that survivors of acute burn trauma are at long-term increased risk of developing a range of morbidities. The mechanisms underlying this increased risk remain unknown. This study aimed to determine whether burn injury leads to sustained immune dysfunction that may underpin long-term morbidity. Plasma and peripheral blood mononuclear cells were collected from 36 pediatric burn survivors >3 years after a non-severe burn injury (<10% total body surface area) and from age/sex-matched non-injured controls.
Research
Developmental trends in young children’s device-measured physical activity and sedentary behaviourKnowledge of developmental trends in meeting age-specific 24-hour movement behaviour guidelines is lacking. This study describes developmental trends in device-measured physical activity and sedentary time over a three-year period among Western Australian children aged two to seven years, including differences between boys and girls.
Research
An overview of risk factors, management and prevention of cochlear implant infectionsWith cochlear implantation becoming increasingly performed worldwide, an understanding of the risk factors, preventive measures, and management of cochlear implant (CI) infection remains important given the significant morbidity and cost it conveys.
Research
Clinical Management of Staphylococcus aureus Bacteremia in Neonates, Children, and AdolescentsStaphylococcus aureus is a common cause of community and health care-associated bacteremia, with authors of recent studies estimating the incidence of S aureus bacteremia (SAB) in high-income countries between 8 and 26 per 100 000 children per year. Despite this, <300 children worldwide have ever been randomly assigned into clinical trials to assess the efficacy of treatment of SAB.
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Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic ReviewBehavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.
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Child Development Services: What Matters To You?Listening to children and families about what is important to them when visiting Child Development Services (CDS) can provide valuable insights.
Research
Promoting Resilience in Stress Management for Parents (PRISM-P) intervention in parents of young children with T1DKeely Amy Tim Bebbington Finlay-Jones Jones MClinPsych/PhD BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS DCH FRACP MD McCusker
Research
STEPS - Equitable Approach to Early Self-Regulation PromotionThis research aims to co-design the components of a practical and equitable public health approach to promoting mental health in toddlers and young children in Western Australia (WA).