Supratentorial RELA fusion (ST-RELA) ependymomas (EPNs) are resistant tumors without an approved chemotherapeutic treatment. Unfortunately, the molecular mechanisms that lead to chemoresistance traits of ST-RELA remain elusive. The aim of this study was to assess RELA fusion-dependent signaling modules, specifically the role of the Hedgehog (Hh) pathway as a novel targetable vulnerability in ST-RELA. ...

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

Natural killer (NK) cells have an intrinsic ability to detect and eliminate leukaemic cells. Cellular therapies using cytokine-activated NK cells have emerged as promising treatments for patients with advanced leukaemia. However, not all patients respond to current NK cell therapies, and thus improvements in efficacy are required. ...

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

Despite the large body of research on missing value distributions and imputation, there is comparatively little literature with a focus on how to make it easy to handle, explore, and impute missing values in data. This paper addresses this gap. The new methodology builds upon tidy data principles, with the goal of integrating missing value handling as a key part of data analysis workflows. ...

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

The rates of family and domestic violence (FDV) remain significantly high in Australia, and to address this, we need to ensure that victim-survivors of FDV are at the centre of these efforts. The research objective was to determine priority issues for future research and policy in FDV as determined by victim-survivors of FDV, providers of FDV services and informal support people. ...

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

Against a backdrop ofwidespread global transmission, a number of countries have successfully brought large outbreaks of COVID-19 under control and maintained near-elimination status. A key element of epidemic response is the tracking of disease transmissibility in near real-time. During major out-breaks, the effective reproduction number can be estimated froma time-series of case, hospitalisation or death counts. In low or zero incidence settings, knowing the potential for the virus to spread is a response priority. ...

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

Type 1 diabetes, one of the common chronic conditions in children and adolescents, is a serious lifelong condition requiring daily treatment with exogenous insulin for survival. Descriptive epidemiology is important for planning of adequate diabetes health-care provision and could provide clues to aetiology. Over the past few decades, standardised diabetes incidence registries have provided a wealth of data from selected countries. ...

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

Prebiotics research in the last decade has come a long way due to the maturation of omics technologies (genomics, transcriptomics, proteomics, metabolomics, and foodomics) and bioinformatics tools. ...

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

Genomic sequence data from worldwide human populations have provided a range of novel insights into our shared ancestry and the historical migrations that have shaped our global genetic diversity. ...

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

Nontypeable Haemophilus influenzae (NTHi) is the most common bacterial otopathogen associated with otitis media (OM). NTHi persists in biofilms within the middle ears of children with chronic and recurrent OM. Australian Aboriginal children suffer exceptionally high rates of chronic and recurrent OM compared to non-Aboriginal children. ...

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

Little attention has been given to the health status and lifestyle behaviours of expectant fathers. This study aimed to examine health-related variables in a cohort of expectant fathers to identify potential focus areas for interventions designed to optimise health and wellbeing outcomes in this group. ...

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

Severity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA. ...

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

This report summarises the epidemiology of hospitalisations with laboratory-confirmed influenza during the 2019 influenza season. The Influenza Complications Alert Network (FluCAN) is a sentinel hospital-based surveillance program that operates at sites in all jurisdictions in Australia. ...

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