Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• March 2010

These observations suggest factors in the modern environment promote pancreatic islet autoimmunity and destruction of insulin-producing beta cells. ...

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

Allergic inflammation is commonly observed in a number of conditions that are associated with atopy including asthma, eczema and rhinitis. ...

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

We propose that propensity for viral exacerbations of asthma and COPD relate to delayed expression of epithelial cell innate anti-viral immune genes ...

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

Currently, DNA methylation is the most studied epigenetic phenomenon in large populations ...

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

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. ...

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

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

Unambiguous identification of nontypeable Haemophilus influenzae (NTHi) is not possible by conventional microbiology. Molecular characterisation of... ...

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

Mitochondria are hubs of metabolic activity with a major role in ATP conversion by oxidative phosphorylation (OXPHOS). The mammalian mitochondrial genome encodes 11 mRNAs encoding 13 OXPHOS proteins along with 2 rRNAs and 22 tRNAs, that facilitate their translation on mitoribosomes. ...

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

Prenatal exposure to vitamin D is thought to be critical for optimal fetal neurodevelopment, yet vitamin D deficiency is apparent in a growing proportion of... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• June 2015

Identified CCI-007 as a novel small molecule that displays rapid toxicity towards a subset of MLL-r, CALM-AF10 and SET-NUP214 leukemia cell lines ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• June 2016

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• October 2014