Once upon a time it was infectious diseases like polio, measles or tuberculosis that most worried parents. With these threats now largely under control, parents face a new challenge – sky-rocketing rates of non-infectious diseases such as asthma, allergies and autism. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2018
• July

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan... ...

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

Authors: Tanyaratsrisakul S, Malainual N, Jirapongsananuruk O, Smith WA, Thomas WR, Piboonpocanun S. Authors notes: Int Arch Allergy Immunol. 2010; ...

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

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

We recently identified C. pseudodiphtheriticum and D. pigrum as the major nasopharyngeal species associated with resistance to recurrent ear infections ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• November 2019

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

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

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

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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

We performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with... ...

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