Head, Translational Genetics Team ...

• 1. Telethon Kids Institute
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Senior Research Officer ...

• 1. Telethon Kids Institute
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MECP2 duplication syndrome is a rare, X-linked, neurodevelopmental disorder that, unlike Rett syndrome, is more likely to affect boys. There is still ...

• Rett syndrome and Related Disorders
• About

Bronchiectasis, particularly in children, is an increasingly recognised yet neglected chronic lung disorder affecting individuals in both low-to-middle and high-income countries. It has a high disease burden and there is substantial inequity within and between settings. Furthermore, compared with other chronic lung diseases, considerably fewer resources are available for children with bronchiectasis.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• March 2024

Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• February 2014

Chronic wet cough in children is the hallmark symptom of protracted bacterial bronchitis (PBB) and if left untreated can lead to bronchiectasis, which is prevalent in Indigenous populations. Underrecognition of chronic wet cough by parents and clinicians and underdiagnosis of PBB by clinicians are known. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

Cough is the most common symptom leading to medical consultation. Chronic cough results in significant health care costs, impairs quality of life, and may indicate the presence of a serious underlying condition. Here, we present a summary of an updated position statement on cough management in the clinical consultation.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• April 2013

Mum Laura, Charlotte and brother Josh For thousands of WA children living with undiagnosed diseases, it’s hope. The computational biology team, a ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2021
• Paradigm shift

Whether airway mucosal acidification drives early progressive lung disease is controversial ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• August 2018