Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet. ...

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

T-cell activation induces context-specific gene expression programs that promote energy generation and biosynthesis, progression through the cell cycle and ultimately cell differentiation. The aim of this study was to apply the omni ATAC-seq method to characterize the landscape of chromatin changes induced by T-cell activation in mature naïve CD4+ T-cells. ...

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

This study demonstrates a critical timing of cigarette smoke exposure over the life course for establishing persistent changes in DNA methylation into adolescence ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• September 2019

For decades Aussies have been told to minimise sun exposure to prevent skin cancer - now researchers at Telethon Kids are challenging that message. ...

• 1. Telethon Kids Institute
• News & Events
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• 2019
• Impact

Invasive fungal disease (IFD) remains a common and serious complication in children treated for leukaemia. Antifungal prescription in children with leukaemia presents unique challenges, particularly due to variation in IFD risk between and within leukaemia treatment protocols, drug toxicities and interactions between antifungals and chemotherapeutic agents. ...

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

What does BHP know about medical research? More than you might imagine! ...

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• 2017

Mailing list Studies Recruiting Get involved Latest articles Looking for COVID information? Pregnancy Nutrition & Allergy Mental Health & Bullying ...

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Aleksandra Filipovska AF BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for ...

• 1. Telethon Kids Institute
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The structures and functions of organelles in cells depend on each other but have not been systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and endoplasmic reticulum genes identified in a whole-genome CRISPR knockout screen for inducers of mitochondrial biogenesis stress, showing that defects in peroxisome, Golgi and endoplasmic reticulum metabolism disrupt mitochondrial structure and function.  ...

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

Teachers are responsible for children at school during peak ultraviolet (UV) times of the day. It is paramount that teachers have knowledge and understanding of UV to effectively protect themselves and their students. The aim of this pilot study was to investigate the effect of a short intervention on preservice teachers’ sun protective behaviours, knowledge and perceived skill to teach sun safety. ...

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