Epidemiological evidence from the past decade suggests a role of vitamin D in food allergy pathogenesis ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

Investigation of this rare mixed lineage leukemia cytogenetic abnormality aims to provide further evidence of the genetic changes that underpin this leukemia. ...

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

Childhood asthma is a condition characterized by airflow obstruction that varies in time spontaneously, in response to various environmental stimuli... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

Visceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response. ...

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

Reporting incidental genomic findings requires various considerations. One of these is that 'the clinical validity and utility of variants should be known'. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• May 2018

We characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• February 2018

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Genevieve Sarra Jenefer Syn Jamieson Blackwell GS SE JM BSc (Hons), PhD BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Research Officer Senior Research Fellow Head, Genetics & Health (08) 6319 1549 Genevieve.syn@ ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• April 2013

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. ...

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

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

Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018