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

Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,... ...

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

This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation. ...

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

Determine whether inhaled albuterol sulfate (salbutamol sulfate) premedication decreases the risk of perioperative respiratory adverse events ...

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

Early viral infections were associated with greater neutrophilic inflammation and bacterial pathogens ...

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

We found no evidence for a difference in the timing of the laryngeal mask airways removal on the incidence of respiratory adverse events ...

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

We aimed to evaluate the use of the EIMM-step method in a broad range of infants. ...

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

Lung clearance index may be a useful surveillance tool to monitor structural lung disease in preschool and school-age children with cystic fibrosis ...

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

Immunisation is the most effective way of protecting your child against a range of serious illnesses, including measles, hepatitis B and whooping cough. All vaccines used in Australia undergo stringent testing and ongoing monitoring. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Christopher Elke Jennifer Peter Tom Blyth Seppanen Kent Richmond Snelling CC ES J PC T MBBS (Hons) DCH FRACP FRCPA PhD BSc PhD RN MBBS MRCP(UK) FRACP BMBS DTMH GDipClinEpid PhD FRACP Director, Wesfarmers Centre of Vaccines and Infectious Diseases; ...

• 1. Telethon Kids Institute
• Projects
• Past projects

This study aimed to determine how pulmonary inflammation & infection impacts on ventilation distribution throughout early life in people with cystic fibrosis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• September 2015

Food allergies have become more common in our community, with up to one in ten young children now affected. Reactions can range from mild rashes to life threatening anaphylaxis and breathing difficulties. The most common food allergies are to egg, peanut, tree nuts, cow’s milk, fish, shellfish, wheat and soy. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics