Human genetic research promises to deliver a range of health benefits to the population. Here we consider how the different levels of Indigenous research... ...

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

We provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility ...

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

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

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

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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

This study aims to establish FASD prevalence among sentenced young people in detention in Western Australia (WA) ...

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

Seasonal influenza vaccine is effective against influenza hospitalisations, but little is known about non-specific effects of the vaccine on other respiratory pathogens with similar seasonal patterns. We aimed to assess the causal impact of seasonal influenza vaccine on laboratory-confirmed hospitalisations for respiratory syncytial virus (RSV) in children using an instrumental variable strategy. ...

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

Previous studies showed that unfavourable weather conditions discourage physical activity. However, it remains unclear whether unfavourable weather conditions have a differential impact on physical activity in children compared with adults. ...

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

MAN v FAT Soccer is a sport-based weight-loss program for overweight and obese men that originated in the United Kingdom (i.e., as MAN v FAT Football) and appears to successfully engage men with weight loss. ...

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

Family-based lifestyle interventions for children/adolescents with severe levels of obesity are numerous, but evidence indicates programs fail to elicit short- or longer-term weight loss outcomes. Families with lived experience can provide valuable insight as we strive to improve outcomes from programs. Our aim was to explore elements that families desired in a program designed to treat severe levels of obesity in young people. ...

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

We suggest that 37 weeks' gestation may not be the optimal cutoff for defining perinatal risk as it applies to behavioural development. ...

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

This data set provides a useful reference point for genomic studies on Aboriginal Australians ...

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