The outcome of infants with KMT2A-germline acute lymphoblastic leukaemia (ALL) is superior to that of infants with KMT2A-rearranged ALL but has been inferior to non-infant ALL patients. Here, we describe the outcome and prognostic factors for 167 infants with KMT2A-germline ALL enrolled in the Interfant-06 study. ...

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

Changes in the rate and fidelity of mitochondrial protein synthesis impact the metabolic and physiological roles of mitochondria. Here we explored how environmental stress in the form of a high-fat diet modulates mitochondrial translation and affects lifespan in mutant mice with error-prone or hyper-accurate mitochondrial ribosomes. Intriguingly, although both mutations are metabolically beneficial in reducing body weight, decreasing circulating insulin and increasing glucose tolerance during a high-fat diet, they manifest divergent (either deleterious or beneficial) outcomes in a tissue-specific manner. ...

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

We report on the Australian experience of blinatumomab for treatment of 24 children with relapsed/refractory precursor B-cell acute lymphoblastic leukaemia (B-ALL) and high-risk genetics, resulting in a minimal residual disease (MRD) response rate of 58%, 2-year progression-free survival (PFS) of 39% and 2-year overall survival of 63%. In total, 83% (n = 20/24) proceeded to haematopoietic stem cell transplant, directly after blinatumomab (n = 12) or following additional salvage therapy (n = 8). ...

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

A significant number of babies present transiently with low protein kinase C zeta (PKCζ) levels in cord blood T cells, associated with reduced ability to transition from a neonatal Th2 to a mature Th1 cytokine bias, leading to a higher risk of developing allergic sensitisation, compared to neonates whose T cells have 'normal' PKCζ levels. However, the importance of PKCζ signalling in regulating their differentiation from a Th2 to a Th1 cytokine phenotype propensity remains undefined. ...

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

Early life is marked by distinct and rapidly evolving immunity and increased susceptibility to infection. The vulnerability of the newborn reflects development of a complex immune system in the face of rapidly changing demands during the transition to extra-uterine life. ...

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

Transcriptomic technologies have revolutionized the study of gene expression and RNA biology. Different RNA sequencing methods enable the analyses of diverse species of transcripts, including their abundance, processing, stability, and other specific features. Mitochondrial transcriptomics has benefited from these technologies that have revealed the surprising complexity of its RNAs. Here we describe a method based upon cyclization of mitochondrial RNAs and next generation sequencing to analyze the steady-state levels and sizes of mitochondrial RNAs, their degradation products, as well as their processing intermediates by capturing both 5' and 3' ends of transcripts. ...

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

Research by the Telethon Institute has shown a significant decline in the risk of birth defects amongst WA children born using Assisted Reproductive Technology. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2012
• September

Recurrent acute otitis media (AOM), frequently caused by Streptococcus pneumoniae, is a major paediatric health problem. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• February 2013

The proposal that dietary docosahexaenoic acid (DHA) enhances neurocognitive functioning in term infants is controversial. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• November 2013

A double-blind, placebo-controlled clinical trial was conducted investigating the use of low-dose oral interferon alpha for preventing acute viral... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• February 2013