Poor maternal diet during pregnancy is a risk factor for severe lower respiratory infections in the offspring, but the underlying mechanisms remain elusive. Here, we demonstrate that in mice a maternal low-fiber diet led to enhanced LRI severity in infants because of delayed plasmacytoid dendritic cell recruitment and perturbation of regulatory T cell expansion in the lungs. ...

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

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. ...

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

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. ...

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

Continuous glucose monitoring (CGM) devices have demonstrated efficacy in adults and more recently in youths and older adults with type 1 diabetes. In adults with type 1 diabetes, the use of real-time CGM compared with intermittently scanned CGM was associated with improved glycemic control, but there are limited data available for youths.  ...

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

Between 1964 and 1996, the 10-year survival of patients having valve replacement surgery for rheumatic heart disease (RHD) in the Northern Territory, Australia, was 68%. As medical care has evolved since then, this study aimed to determine whether there has been a corresponding improvement in survival. ...

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

Machine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications. ...

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

Substance use disorders (SUDs) cause significant harm to regional Australians, who are more likely to misuse alcohol and other drugs (AODs) and encounter difficulty in accessing treatment services. The primary aims of this study were to describe the demographics of patients aeromedically retrieved from regional locations and compare hospital outcomes with a metropolitan-based cohort. ...

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

Australian families increasingly rely on eating foods from outside the home, which in-creases intake of energy‐dense nutrient‐poor foods. ‘Kids’ Menus’ are designed to appeal to families and typically lack healthy options. However, the nutritional quality of Kids’ Menus from cafes and full‐service restaurants (as opposed to fast‐food outlets) has not been investigated in Australia. The aim of this study was to evaluate the nutritional quality of Kids’ Menus in restaurants and cafés in metropolitan Perth, Western Australia. ...

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

Chris Deborah Tamara Brennan-Jones Lehmann Veselinovic C D TV PhD AO, MBBS, MSc MClinAud Head, Ear Health Honorary Emeritus Fellow Clinical Research ...

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

The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. ...

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