Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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

ATP Binding Cassette Subfamily A Member 3 (ABCA-3) is a lipid transporter protein highly expressed in type-II alveolar (AT-II) cells. Mutations in ABCA3 can result in severe respiratory disease in infants and children. To study ABCA-3 deficiency in vitro, primary AT-II cells would be the cell culture of choice although sample accessibility is limited. Our aim was to investigate the suitability of primary nasal epithelial cells, as a surrogate culture model for AT-II cells, to study ABCA-3 deficiency. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

The airway epithelium of children with wheeze is characterized by defective repair that contributes to disease pathobiology. Dysregulation of developmental processes controlled by Notch has been identified in chronic asthma. However, its role in airway epithelial cells of young children with wheeze, particularly during repair, is yet to be determined. ...

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

For those born with cystic fibrosis (CF), hyper-concentrated mucus with a dysfunctional structure significantly impacts CF airways, providing a perfect environment for bacterial colonization and subsequent chronic infection. Early treatment with antibiotics limits the prevalence of bacterial pathogens but permanently alters the CF airway microenvironment, resulting in antibiotic resistance and other long-term consequences. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Repurposed drugs with host-directed antiviral and immunomodulatory properties have shown promise in the treatment of COVID-19, but few trials have studied combinations of these agents. The aim of this trial was to assess the effectiveness of affordable, widely available, repurposed drugs used in combination for treatment of COVID-19, which may be particularly relevant to low-resource countries.  ...

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

We hypothesized that allergic inflammation decreases the level of circulating 25(OH)D and tested this using a mice model of house dust mite (HDM) induced... ...

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

In this study, we aimed to use microRNAs-which are critical regulators of signaling cascades-to identify so far uncharacterized asthma pathogenesis pathways ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• April 2017

Our data associates IL-1α with early structural lung damage in CF and suggests this pathway as a novel anti-inflammatory target ...

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

There is controversy regarding whether cystic fibrosis (CF) airway epithelial cells (AECs) are intrinsically proinflammatory. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• February 2011

Anthony Belinda Ingrid Kicic Hales Laing A BJ IL BSc (Hons) PhD BSc (Hons) PhD BSc PhD Rothwell Family Fellow; Head, Airway Epithelial Research ...

• 1. Telethon Kids Institute
• Projects