In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. ...

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

People with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability. ...

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

Within the vast majority of qualitative health research involving Indigenous populations, Indigenous people have been marginalised from research conceptualisation and conduct. This reflects a lack of regard for Indigenous ways of knowing, being, and doing, has served to perpetuate deficit narratives of Indigenous peoples’ health and wellbeing, and contributes to failure in addressing inequities as a result of ongoing colonisation and institutionalised oppression and racism. ...

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

This study aimed to systematically review the literature on the associations between birth spacing and developmental outcomes in early childhood (3–10 years of age). Studies examining the associations between interpregnancy intervals and child development outcomes during and beyond the perinatal period have not been systematically reviewed. ...

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

Current differentiation protocols have not been successful in reproducibly generating fully functional human beta cells in vitro, partly due to incomplete understanding of human pancreas development. Here, we present detailed transcriptomic analysis of the various cell types of the developing human pancreas, including their spatial gene patterns. We integrated single-cell RNA sequencing with spatial transcriptomics at multiple developmental time points and revealed distinct temporal-spatial gene cascades. ...

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

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. ...

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

This study explored whether exposure to either an ‘ambiguous consumption’ prototype (no amount of alcohol specified) or a ‘small consumption’ prototype (‘small’ amount of alcohol specified) had an impact on prototype perceptions of, and willingness to use, small amounts of alcohol during pregnancy. ...

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

We sought to investigate the association between food-outlet availability near Australian secondary schools and frequency of Australian students’ discretionary food purchases. ...

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

Empowering young people with type 1 diabetes (T1D) to manage their blood glucose levels during exercise is a complex challenge faced by health care professionals due to the unpredictable nature of exercise and its effect on blood glucose levels. Mobile health (mHealth) apps would be useful as a decision-support aid to effectively contextualize a blood glucose result and take appropriate action to optimize glucose levels during and after exercise. ...

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

Early childhood is a critical window for preventing obesity and chronic disease. Yet, 1 in 4 Australian children aged 5 years and under are affected by overweight or obesity; and significant proportions of children under 5 years fail to meet guidelines for diet quality, physical activity (PA), screen time, and sleep. ...

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

Britta Regli-von Ungern-Sternberg BRVUS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant Paediatric Anaesthetist, Perth Children’s Hospital; Team Leader, Perioperative Medicine Team; Program Lead, ...

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

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