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

Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation. ...

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

We assessed replication and excretion of the live attenuated CYD-TDV into biological fluids following vaccination in dengue-naive adults in Australia. ...

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

The control arm of PATRICIA (PApillomaTRIal against Cancer In young Adults, NCT00122681) was used to investigate the risk of progression from cervical HPV... ...

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

A step-by-step guide to collecting and returning ORIGINS samples ...

• The ORIGINS Project
• For participants

You may have noticed some changes to the phone triage system for Perth Children’s Hospital’s diabetes clinic recently. ...

• Rio Tinto Children's Diabetes Centre
• News and events

Perth's Telethon Kids Institute have shown that genetic variations that influence BMI and diabetes are similar to those in non-Aboriginal populations. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2015
• March

Due to the extensive past use of asbestos in Australia, known exposure is common and causes anxiety, especially with the increased risk of thoracic malignancies ...

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

There is now compelling evidence that long-term health and physiological function are modified by events that occur early in life and involve interactions... ...

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

The legacy of Wittenoom has extended beyond the mine and the town, and is still evident more than 50 years after the closure of the mine ...

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