PTEN mutation occurs in a variety of aggressive cancers and is associated with poor patient outcomes. Recent studies have linked mutational loss of PTEN to reduced RAD51 expression and function, a key factor involved in the homologous recombination (HR) pathway. However, these studies remain controversial, as they fail to establish a definitive causal link to RAD51 expression that is PTEN-dependent, while other studies have not been able to recapitulate the relationship between the PTEN expression and the RAD51/HR function. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020

COVID-19 has caused a global public health crisis affecting most countries, including Ethiopia, in various ways. This study maps the vulnerability to infection, case severity and likelihood of death from COVID-19 in Ethiopia. Thirty-eight potential indicators of vulnerability to COVID-19 infection, case severity and likelihood of death, identified based on a literature review and the availability of nationally representative data at a low geographic scale, were assembled from multiple sources for geospatial analysis. Geospatial analysis techniques were applied to produce maps showing the vulnerability to infection, case severity and likelihood of death in Ethiopia at a spatial resolution of 1 km×1 km. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• February 2021

Prostate cancer is the most commonly diagnosed malignancy and the third leading cause of cancer deaths. GWAS have identified variants associated with prostate cancer susceptibility; however, mechanistic and functional validation of these mutations is lacking. ...

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

The genetic code that specifies the identity of amino acids incorporated into proteins during protein synthesis is almost universally conserved. Mitochondrial genomes feature deviations from the standard genetic code, including the reassignment of two arginine codons to stop codons. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Neutrophils are the most abundant immune cell in circulation. However, due to a number of technical challenges for researchers, including the neutrophil's short lifespan and difficulties with preservation, they are often discarded during blood processing and thus ignored in cohort studies. As such, the contribution of neutrophils to disease and their involvement in disease mechanisms is less explored compared with other immune cell types. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023

Advancements in genomic profiling led to the discovery of four major molecular subgroups in medulloblastoma (MB), which have now been incorporated into the World Health Organization classification of central nervous system tumors. The current study aimed to determine the prognostic significance of the MB molecular subgroups among children in Malaysia.  ...

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

A child's cancer diagnosis has a significant impact on the lives of grandparents. Grandparents experience the stress of worrying about both their adult children and their grandchildren. Our study aimed to explore the lived experience of grandparents of children diagnosed with cancer. ...

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

This study involved focus groups with 132 children and 12 parents in primary and secondary school in Victoria to explore children's independent mobility. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• May 2017

This study investigated patterns of universal health and education service use from birth through Kindergarten (age 4 years) and estimated associations between cumulative risk and service use patterns, and between service use patterns and children's developmental vulnerability in the Preparatory Year (age 5 years). ...

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

In this chapter we provide a brief summary of the key themes of the book, identify emerging directions and challenges in life course theory and data designs and highlight some policy challenges for researchers going forward. © 2022, The Author(s). ...

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