The large diversity of central nervous system (CNS) tumor types in children and adolescents results in disparate patient outcomes and renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling and targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort of more than 1,200 newly diagnosed pediatric patients with CNS tumors, to assess their utility in routine neuropathology. ...

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

The Australian Technical Advisory Group on Immunisation and New Zealand Ministry of Health recommend all children aged ≥ 5 years receive either of the two mRNA COVID-19 vaccines: Comirnaty (Pfizer), available in both Australia and New Zealand, or Spikevax (Moderna), available in Australia only. Both vaccines are efficacious and safe in the general population, including children. Children and adolescents undergoing treatment for cancer and immunosuppressive therapy for non-malignant haematological conditions are particularly vulnerable, with an increased risk of severe or fatal COVID-19. ...

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

COVID-19 has had far-reaching impacts including changes in work, travel, social structures, education, and healthcare. This study aimed to explore the experiences of parents of children receiving treatment for cancer during the COVID-19 pandemic. ...

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

Embryonal tumours with multi-layered rosettes (ETMRs) are a newly recognised, rare paediatric brain tumour with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumours are poorly defined. We did an integrated clinicopathological and molecular analysis of primary ETMRs to define clinical phenotypes, and to identify prognostic factors of survival and key treatment modalities for this orphan disease. ...

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

Medulloblastoma is curable in approximately 70 % of patients. Over the past decade, progress in improving survival using conventional therapies has stalled... ...

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

Here we present an approach for the DNA methylation-based classification of central nervous system tumors across all groups and demonstrate its application. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• March 2018

To identify links between drug resistance and gene deregulation we used oligonucleotide microarray technology. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• March 2012

Co-Head, Brain Tumour Research ...

• 1. Telethon Kids Institute
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The mitogen-activated protein kinase (MAPK) pathway signaling pathway is one of the most commonly mutated pathways in human cancers. In particular, BRAF alterations result in constitutive activation of the rapidly accelerating fibrosarcoma-extracellular signal-regulated kinase-MAPK significant pathway, leading to cellular proliferation, survival, and dedifferentiation. ...

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

Nick Raelene Gottardo Endersby NG R MBChB FRACP PhD BSc (Hons) PhD Co-Head, Brain Tumour Research Brainchild Fellow; Co-Head, Brain Tumour Research ...

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