Survival statistics, estimated using data from national cystic fibrosis (CF) registries, inform the CF community and monitor disease progression. This study aimed to estimate survival among people with CF in Australia and to identify factors associated with survival. ...

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

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• June 2024

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. ...

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

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype. ...

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

Senior Research Officer ...

• 1. Telethon Kids Institute
• Contact us
• Our people
• Staff Profiles - S

MECP2 duplication syndrome is a rare, X-linked, neurodevelopmental disorder that, unlike Rett syndrome, is more likely to affect boys. There is still ...

• Rett syndrome and Related Disorders
• About

Surfactant, which was first identified in the 1920s, is pivotal to lower the surface tension in alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis. Surfactant proteins, such as surfactant protein B and surfactant protein C, contribute to function and stability of surfactant film. ...

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

Establishing the underlying cause in a child with chronic suppurative lung disease (CSLD) allows for targeted treatment and screening for associated complications. One cause of CSLD is primary ciliary dyskinesia (PCD). Testing for PCD requires specialist expertise which is not widely available. ...

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

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

Head, Translational Genetics Team ...

• 1. Telethon Kids Institute
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• Our people
• Staff Profiles - F