Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. ...

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

The genetic code that specifies the identity of amino acids incorporated into proteins during protein synthesis is almost universally conserved. Mitochondrial genomes feature deviations from the standard genetic code, including the reassignment of two arginine codons to stop codons. ...

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

Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers ...

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

Although genetic and epidemiological evidence indicates vitamin D insufficiency contributes to multiple sclerosis (MS), and serum levels of vitamin D increase on treatment with cholecalciferol, recent metanalyses indicate that this vitamin D form does not ameliorate disease. Genetic variation in genes regulating vitamin D, and regulated by vitamin D, affect MS risk. ...

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

Here, we identifyied 12 suggestively significant loci associated with intake of any macronutrient in 91,114 European ancestry participants ...

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

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. ...

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

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. ...

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

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

The purpose of this review is to examine the role of innate immunity in the lungs in the development of allergy and asthma. ...

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

This study was the first to concurrently identify middle ear pathogens in both bacterial biofilm and intracellularly in the middle ear mucosa of children and to identify extensive DNA stranding in the MEF from children with AOM ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• December 2012