Fetal Alcohol Spectrum Disorder is a neurodevelopmental disorder caused by exposure to alcohol in utero. It has pervasive, lifelong impacts and is recognised as a major public health concern in many countries where alcohol is used. The FASD Research Australia Centre of Research Excellence was funded by the National Health and Medical Research Council to generate and translate evidence to address prevention, diagnosis, and management of FASD in Australia. ...

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

Pineoblastoma is a rare brain tumor usually diagnosed in children. Given its rarity, no pineoblastoma-specific trials have been conducted. Studies have included pineoblastoma accruing for other embryonal tumors over the past 30 years. ...

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

The goal of the current study was to investigate asthma and mental health among youth in the community. ...

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

André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head of Respiratory Health and Head of the BREATH Team at Telethon Kids Institute. He is passionate ...

• 1. Telethon Kids Institute
• Projects

André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head of Respiratory Health and Head of the BREATH Team at Telethon Kids Institute. He is passionate ...

• 1. Telethon Kids Institute
• Projects

Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation. ...

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

From Marginalised to Empowered: transformative methods for Aboriginal Health and Wellbeing Chief Investigators: Professor Fiona Stanley (Telethon Kids Institute) Associate Professor Dawn Bessarab (University of Western Australia) Professor Juli ...

• 1. Telethon Kids Institute
• Our research
• Indigenous Health

Brain cancer and leukemia are the most common cancers diagnosed in the pediatric population and are often treated with lifesaving chemotherapy. However, chemotherapy causes severe adverse effects and chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting and debilitating side effect. ...

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

In this chapter we use rich longitudinal data to examine the typical growth of vocabulary in children as they age from 4 years onwards. ...

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

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. ...

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

The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. ...

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

The evolutionary acquisition of mitochondria has given rise to the diversity of eukaryotic life. Mitochondria have retained their ancestral α-proteobacterial traits through the maintenance of double membranes and their own circular genome. Their genome varies in size from very large in plants to the smallest in animals and their parasites. The mitochondrial genome encodes essential genes for protein synthesis and has to coordinate its expression with the nuclear genome from which it sources most of the proteins required for mitochondrial biogenesis and function. ...

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