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

The evolutionary acquisition of mitochondria has given rise to the diversity of eukaryotic life. Mitochondria have retained their ancestral α-proteobacterial traits through the maintenance of double membranes and their own circular genome. Their genome varies in size from very large in plants to the smallest in animals and their parasites. The mitochondrial genome encodes essential genes for protein synthesis and has to coordinate its expression with the nuclear genome from which it sources most of the proteins required for mitochondrial biogenesis and function. ...

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

Vital research aiming to improve the treatment of potentially deadly Group A Streptococcus (Strep A) has been awarded $820,000 in the latest round of National Health and Medicine Research Council’s Ideas Grants. ...

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

new research at Telethon Kids Institute will look at the diets of mums to see if regularly eating more eggs or peanuts during pregnancy and while breastfeeding ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2017
• December

From Marginalised to Empowered: transformative methods for Aboriginal Health and Wellbeing Chief Investigators: Professor Fiona Stanley (Telethon ...

• 1. Telethon Kids Institute
• Our research
• Indigenous Health

Medulloblastoma (MB) is the most common malignant brain tumor in children and a leading cause of cancer-related mortality and morbidity. ...

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

This is a rare examination of joblessness over 3 succeeding generations and its onward effects upon children, and is one of the few in the research literature. ...

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

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

Brain cancer and leukemia are the most common cancers diagnosed in the pediatric population and are often treated with lifesaving chemotherapy. However, chemotherapy causes severe adverse effects and chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting and debilitating side effect. ...

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