The aim of this Cochrane Review was to find out if hearing loss caused by noise at work is being prevented by current interventions ...

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

Group A streptococcus (GAS) infections, such as pharyngitis and impetigo, can lead to rheumatic fever and rheumatic heart disease (RHD). Australian Aboriginal and Torres Strait Islander populations experience high rates of RHD and GAS skin infection, yet rates of GAS pharyngitis are unclear.  ...

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

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

This study shows that timing is important for understanding intergenerational transmission of deliberate self-harm risk ...

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

The caregivers in this study have gained valuable knowledge and wisdom through caring for a child with FASD ...

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

For decades, the research community has called for participant information sheets/consent forms (PICFs) to be improved. Recommendations include simplifying content, reducing length, presenting information in layers and using multimedia. However, there are relatively few studies that have evaluated health consumers' (patients/carers) perspectives on the type and organisation of information, and the level of detail to be included in a PICF to optimise an informed decision to enter a trial. ...

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

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation. ...

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

Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• December 2017

IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of... ...

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

Otitis media (OM) is among the most common illnesses of early childhood, characterised by the presence of inflammation in the middle ear cavity... ...

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

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

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

We identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes. ...

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