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Translational Genetics

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 treatments

Research 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 Response

Epidemiological 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 behaviour

Knowledge 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 infections

With 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 Adolescents

Staphylococcus 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.

Research

Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic Review

Behavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.

Research

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 T1D

Keely 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 Promotion

This 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).