We identified previously unidentified gene fusions involving the MET oncogene in pediatric glioblastoma ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• October 2016

Sarah Ben James Timothy Paduano Jackson Dimmock Budden SP BJ JD TB BPsych (Hons) BSc (Hons) PhD BSc (Hons); BComm; PhD BSc PhD PhD Candidate Research Theme Head, Brain and Behaviour Honorary Research Associate Honorary Research Associate +6488 2661 ...

• 1. Telethon Kids Institute
• Projects

Felicity Bonnie Ben Austin Furzer Jackson FA BF BJ BScExRehab, MClinExPhys BA/BSc (Hons) PhD BSc (Hons) PhD PhD Candidate Honorary Research Associate Research Theme Head, Brain and Behaviour 0400 198 166 Felicity.Austin@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects

Malaria is a serious threat to global health, with over 95 % of the cases reported in 2020 by the World Health Organization in African countries, including Sudan. Sudan is a low-income country with a limited healthcare system and a substantial burden of malaria. ...

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

The need for coronavirus 2019 (COVID-19) vaccination in different age groups and populations is a subject of great uncertainty and an ongoing global debate. Critical knowledge gaps regarding COVID-19 vaccination include the duration of protection offered by different priming and booster vaccination regimens in different populations, including homologous or heterologous schedules. ...

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

At the end of 2019 and into 2020, catastrophic fires in Australia consumed homes, lives, wildlife, and land. Just as the fires subsided, Australia, like the rest of the world, faced another emergency—the COVID-19 pandemic. It is instructive to reflect on lessons from the health disasters of the past year. Following publication of the Lancet Countdown on Health and Climate Change, the Medical Journal of Australia (MJA)–Lancet Australian Countdown was published in December, 2020. This annual report on health and climate change in Australia is in its third year and comprises the efforts of five Australian institutions, in collaboration with University College London, UK, facilitated by a partnership between The Lancet and the MJA. ...

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

Tess Gregory TG BSc (Hons), PhD (Psychology) Senior Research Fellow +61 8 6375 6113 tess.gregory@telethonkids.org.au Senior Research Fellow Tess is a Senior Research Fellow at the Telethon Kids Institute with a background in Psychology and ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Population Health Program
• Early Years Systems Evidence

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. ...

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

The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. ...

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

Cells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown. ...

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

Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation. ...

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

The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations. ...

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