The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases. ...

• 1. Telethon Kids Institute
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• Chronic and Severe Diseases
• Precision Health

Senior Research Fellow ...

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Abdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

Background: β-lactam antibiotics are associated with a variety of immune-mediated or hypersensitivity reactions, including immediate (type I) reactions mediated by antigen-specific IgE. Objective: We sought to identify genetic predisposing factors for immediate reactions to β-lactam antibiotics. ...

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

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
• March 2011

Clustering of cases of malignant mesothelioma within families has often been observed, but disentangling genetic and exposure effects has not been done. ...

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

The potential of antisense oligonucleotide therapies for inherited childhood lung diseases Discover. Prevent. Cure. Antisense oligonucleotides (AOs) ...

• Wal-yan Respiratory Research Centre
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• AREST CF (Cystic Fibrosis)
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Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. ...

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

In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted. ...

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

Article title Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, ...

• Rett syndrome and Related Disorders
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