The Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems ...

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

Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: vtg@telethonkids.org.au Pneumococcal ...

• Wesfarmers Centre of Vaccines & Infectious Diseases
• Our research
• Vaccine Trials Group
• 2020 VTG Christmas Update

Whether airway mucosal acidification drives early progressive lung disease is controversial ...

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

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

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

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

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

Structural lung changes seen on computed tomography scans in persons with primary ciliary dyskinesia are currently described using cystic fibrosis derived scoring systems. Recent work has shown structural changes and frequencies that are unique to PCD, indicating the need for a unique PCD-derived scoring system. ...

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

To determine the frequency of protracted bacterial bronchitis (PBB) in children referred to tertiary care with chronic cough and describe management prior to referral. A retrospective cohort study of all new patients with a history of ≥4 weeks of cough seen at the only tertiary paediatric outpatient respiratory service in Western Australia. ...

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

By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway. ...

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

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

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

Protracted bacterial bronchitis (PBB) is a leading cause of chronic wet cough in children. The current standard treatment in European and American guidelines is 2 weeks of antibiotics, but the optimal duration of therapy is unknown. We describe the first randomised controlled trial to assess the duration of antibiotic treatment in children with chronic wet cough and suspected PBB. ...

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