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

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

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. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• February 2017

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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

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

• Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

Dysregulated expression of IFN-dependent pathways after respiratory viral infections is a defining immunophenotypic feature of AVB-susceptible infants ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• June 2019

The relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

Impaired interferon response and allergic sensitization may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells play a key role in antiviral immunity as critical producers of type I interferons.  ...

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

Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

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

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