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

The bone marrow microenvironment plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression. ...

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

Convalescent plasma has been widely used to treat COVID-19 and is under investigation in numerous randomized clinical trials, but results are publicly available only for a small number of trials. The objective of this study was to assess the benefits of convalescent plasma treatment compared to placebo or no treatment and all-cause mortality in patients with COVID-19. ...

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

Patients with haematological malignancies, haemopoietic stem cell transplant recipients and patients requiring admission to intensive care settings are at high risk for invasive candidiasis (IC). Over the past decade, there has been increased reporting of non-albicans species and fluconazole resistance in Australia. These guidelines provide updated evidence-based recommendations for the diagnosis and management of IC in adult and paediatric haematology, oncology and intensive care settings. ...

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

The concept of planetary health blurs the artificial lines between health at scales of person, place, and planet. It emphasizes the interconnected grand challenges of our time, and underscores the need for integration of biological, psychological, social, and cultural aspects of health in the modern environment. Here, in our Viewpoint article, we revisit vaccine pioneer Jonas Salk’s contention that wisdom is central to the concept of planetary health. ...

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

Embryonal tumours with multi-layered rosettes (ETMRs) are a newly recognised, rare paediatric brain tumour with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumours are poorly defined. We did an integrated clinicopathological and molecular analysis of primary ETMRs to define clinical phenotypes, and to identify prognostic factors of survival and key treatment modalities for this orphan disease. ...

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

Middle ear infections are one of the main reasons that children visit a GP, are prescribed antibiotics and need surgery. Aboriginal children are particularly susceptible and commonly suffer from hearing loss which can affect speech and learning. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

This is the first study demonstrating facial hypermasculinisation in ASD and its relationship to social-communication difficulties in prepubescent children ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• August 2017