Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study. ...

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

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

Chinese immigrants living in Australia experience increased allergic conditions: asthma, eczema, hay fever and wheeze. Recently we reported diminished innate cytokine responses in long-term immigrants, potentially increasing their pathogenic viral load and microbial carriage. We hypothesise that a Western environment changes the nasal microbiome profile, and this altered profile may be associated with the development of allergic conditions. In this cross-sectional study, we aimed to examine the loading of viral and microbial respiratory pathogens in the upper airway. ...

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

The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

Non-communicable diseases (NCDs) pose the greatest threat to human health globally. The dramatic rise in early onset NCDs - such as childhood obesity, the allergy epidemic and an increasing burden of mental ill health in children and youth - reflect the profound early impact of modern environments on developing systems. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• September 2020

Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• August 2020

Baseline signatures might contribute to identifying interventional targets to be modulated prior to vaccination in order to improve vaccination responses ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• June 2020

Blood responses in very preterm infants with LOS are characterised by altered host immune responses that appear to reflect unbalanced immuno-metabolic homeostasis ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• June 2020

Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• April 2020

Here we examine the latest findings of neutrophils in pediatric CF lung disease and proposed mechanisms of their pathogenicity ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• April 2020