Structural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown. ...

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

Our data emphasize the heterogeneity of NMC and highlights genetic aberrations that could be explored to improve therapeutic strategies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• December 2017

Rishi Sury Laurence Sébastien Kotecha Cheung Malinge RS LC SM MB ChB (Hons) MRCPCH FRACP PhD BPharm (Hons) MBA PhD PhD Co-Head, Leukaemia ...

• 1. Telethon Kids Institute
• Projects

Cancer cells display DNA hypermethylation at specific CpG islands in comparison to their normal healthy counterparts, but the mechanism that drives this so-called CpG island methylator phenotype (CIMP) remains poorly understood. Here, we show that CpG island methylation in human T-cell acute lymphoblastic leukemia (T-ALL) mainly occurs at promoters of Polycomb Repressor Complex 2 (PRC2) target genes that are not expressed in normal or malignant T-cells and which display a reciprocal association with H3K27me3 binding. ...

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

Mental health benefits of a pedometer-based exercise intervention for parents of children with cancer were identified. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• December 2017

We compared early vocal development in children "at risk" for cerebral palsy (CP) with typically developing (TD) infants aged 6 to 15 months using the SAEVD-R, investigating potential pre-linguistic markers of communication impairment. Additionally, we sought to examine the agreement between the SAEVD-R and IMP, which uses parent report, in identifying departure from typical vocal development in at-risk infants. ...

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

Rearrangements of the Mixed Lineage Leukemia (MLL/KMT2A) gene are present in approximately 10% of acute leukemias and characteristically define disease with poor outcome. ...

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

As the prevalence of allergic disease dramatically rises worldwide, prevention strategies are increasingly being considered. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• March 2017

Tom Snelling T BMBS DTMH GDipClinEpid PhD FRACP Head, Infectious Disease Implementation Research 08 6319 1817 tom.snelling@telethonkids.org.au Head, ...

• 1. Telethon Kids Institute
• Projects

Perioperative respiratory adverse events pose a significant risk in pediatric anesthesia, and identifying these risks is vital. Traditionally, this is assessed using history and examination. However, the perioperative risk is multifactorial, and children with complex medical backgrounds such as chronic lung disease or obesity may benefit from additional objective preoperative pulmonary function tests. ...

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