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

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

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

Visceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response. ...

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

While chemotherapy remains the first-line treatment for many cancers, it is still unclear what distinguishes responders from non-responders. Here, we characterize the chemotherapy-responsive tumor microenvironment in mice, using RNA sequencing on tumors before and after cyclophosphamide, and compare the gene expression profiles of responders with progressors. ...

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

This review will discuss the necessary steps required for a Bayesian adaptive platform trial to optimize treatment of pulmonary exacerbations of cystic fibrosis ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• March 2019

The aim of this study is to identify and quantify the preferences of patients with cystic fibrosis regarding treatment outcomes ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

This review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

A growing body of evidence supports the concept of a systemic response to non-severe thermal trauma. This provokes an immunosuppressed state that predisposes paediatric patients to poor recovery and increased risk of secondary morbidity. ...

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

Strategies to address reasons for and treatment of chronic wet cough and protracted bacterial bronchitis in young Aboriginal children in remote north Western Australia are required ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• December 2019

Modulation of ASL pH has been proposed as a therapy for CF. However, evidence that ASL pH is reduced in CF is limited and conflicting. ...

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

Aleksandra Filipovska AF BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for Synthetic Biology; Adjunct Research Professor, Monash University Louis Landau Chair in Child Health ...

• 1. Telethon Kids Institute
• Projects

This study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• November 2012