Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal ...

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

Health care workers (HCWs) are at an increased risk of catching and spreading Coronavirus Disease 2019 (COVID-19) compared with the general community, putting health systems at risk. Several jurisdictions globally have mandated or are looking to mandate COVID-19 vaccines for this cohort, but little is known about the acceptability of this measure, especially in different contexts, and there is little qualitative data to explore nuance, depth, and the reasons behind HCWs’ opinions. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• September 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 goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

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

A researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2023
• December

The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients. ...

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

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• February 2015

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. ...

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

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

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