Accumulating evidence of the role of genetic variation in CP aetiology suggests that individuals with CP should undergo genomic testing as part of their diagnostic workup ...

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

David Burgner, Nick de Klerk, Kim Carter   Infection is the leading cause of global child mortality and morbidity, and in Australia the commonest reason for childhood hospitalisation. Infection-related conditions are the commonest surgical ...

• 1. Telethon Kids Institute
• Our research
• Expertise and technologies
• Bioinformatics

Mapping murine genes controlling cutaneous leishmaniasis (CL) identified Fli1 as a candidate influencing resistance to L. major and enhanced wound healing. ...

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

In asthma, a significant portion of the interaction between genetics and environment occurs through microbiota. The proposed mechanisms behind this interaction are complex and at times contradictory. This review covers recent developments in our understanding of this interaction: the "microbial hypothesis" and the "farm effect"; the role of endotoxin and genetic variation in pattern recognition systems; the interaction with allergen exposure; the additional involvement of host gut and airway microbiota; the role of viral respiratory infections in interaction with the 17q21 and CDHR3 genetic loci; and the importance of in utero and early-life timing of exposures. ...

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

Jenefer Sarra Blackwell Jamieson JM SE BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD Head, Genetics & Health Senior Research Fellow Jenefer.Blackwell@telethonkids.org.au sarra.jamieson@telethonkids.org.au Head, Genetics & ...

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

The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation. ...

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

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability... ...

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

Genetic screening technologies to identify and validate macromolecular interactions (MMIs) essential for complex pathways remain an important unmet need for systems biology and therapeutics development. Here, we use a library of peptides from diverse prokaryal genomes to screen MMIs promoting the nuclear relocalization of Forkhead Box O3 (FOXO3a), a tumor suppressor more frequently inactivated by post-translational modification than mutation. ...

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

We report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease ...

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

TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups ...

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

There is insufficient evidence available to determine whether these organisms are pathogens, commensals or contribute indirectly to the pathogenesis of OM ...

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

This study aimed to investigate the effects of different macro-environments on asthma genotype-phenotype associations in 2 geographically separated populations ...

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