Asha Bowen AC BA MBBS DCH FRACP PhD GAICD OAM Head, Healthy Skin and ARF Prevention Head, Healthy Skin and Arf Prevention Areas of expertise: Skin infections, clinical trials, Streptococcus pyogenes, Staphylococcus aureus, Aboriginal children, COVID ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Skin Health

Nick Raelene Gottardo Endersby NG R MBChB FRACP PhD BSc (Hons) PhD Co-Head, Brain Tumour Research Brainchild Fellow; Co-Head, Brain Tumour Research nicholas.gottardo@telethonkids.org.au raelene.endersby@telethonkids.org.au Co-Head, Brain Tumour ...

• 1. Telethon Kids Institute
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Chris Peter Valerie Lea-Ann Ruth Jaimee Melinda Charlie Elke Tamara Robyn Brennan-Jones Richmond Swift Kirkham Thornton Rich Edmunds McLeod Seppanen Veselinovic Choi C PC VS LK RT JR ME CM ES TV RC PhD MBBS MRCP(UK) FRACP PhD PhD BNurs BSc MBBS ( ...

• 1. Telethon Kids Institute
• Projects

Stephen Yuliya Stick Karpievitch SM YK MB BChir PhD MRCP FRACP PhD, MS, BS Head, P4 Respiratory Health for Kids Ai and Data Analytics Lead, Respiratory Research +61863191356 yuliya.karpievitch@telethonkids.org.au Head, P4 Respiratory Health for Kids ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Respiratory Health Program
• P4 Respiratory Health for Kids

In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

The term 'ultra-processed food' emerged in the 1980s, mostly used in reference to highly-processed convenience foods and snacks, often energy-dense, poor in nutrients, and inclusive of various synthetic additives such as emulsifiers, colors, artificial sweeteners, and/or flavor enhancers. ...

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

Acute leukaemia is the most common childhood malignancy. Almost all cases are classified as acute lymphoblastic leukaemia or acute myeloid leukaemia. Acute leukaemia of ambiguous lineage (ALAL) is a rare form of acute leukaemia that cannot be classified by a single lineage. Like other acute leukaemias, ALAL typically presents with nonspecific symptoms such as fatigue, fever, or bleeding. ...

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

Our work has identified a clinically relevant host-derived factor that may participate in shaping early events in the aetiology of CF respiratory disease ...

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

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide). ...

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

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

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

The long-term cardiopulmonary outcomes following preterm birth during the surfactant era remain unclear. Respiratory symptoms, particularly exertional symptoms, are common in preterm children. Therefore, cardiopulmonary exercise testing may provide insights into the pathophysiology driving exertional respiratory symptoms in those born preterm. This review aims to outline the current knowledge of cardiopulmonary exercise testing in the assessment of children born preterm in the surfactant era. ...

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

Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches. ...

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