A follow-up of Kidskin Study participants provides an opportunity to investigate the associations between a childhood sun-exposure intervention and potentially related conditions in adulthood ...

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

Among genes present in all group A streptococci (GAS), those encoding M-fibril and T-pilus proteins display the highest levels of sequence diversity, giving rise to the two primary serological typing schemes historically used to define strain. A new genotyping scheme for the pilin adhesin and backbone genes is developed and, when combined with emm typing, provides an account of the global GAS strain population. ...

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

This study demonstrates novel intrinsic differences in tight junctions gene and protein expression between airway epithelial cells of children with and without asthma ...

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

The genetic code that specifies the identity of amino acids incorporated into proteins during protein synthesis is almost universally conserved. Mitochondrial genomes feature deviations from the standard genetic code, including the reassignment of two arginine codons to stop codons. ...

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

Elucidation of early life factors is critical to understand the development of allergic diseases, especially those manifesting in early life such as food allerg ...

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

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

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

Suggests that IL-1R1 expression provides an additional level of Myd88-dependent signaling during this period of heighted susceptibility to infection. ...

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

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

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

Patients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics. ...

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

We propose that hydroxychloroquine could be repurposed to reduce the risk of rheumatic heart disease after acute rheumatic fever ...

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

Food allergy is mediated by a combination of genetic and environmental risk factors, potentially mediated by epigenetic mechanisms. ...

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

Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis ...

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