Overall results of this preliminary study suggest that supplementation with fish oil may only significantly increase DHA in minor allele carriers of FADS1 SNPs. Further research is required to confirm this novel finding. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

Mechanisms underlying the anaphylactic reaction in humans are not fully understood. Here, we aimed at improving our understanding of anaphylaxis by investigating gene expression changes. ...

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

Zebrafish have the ability to regenerate damaged parts of their central nervous system (CNS) and regain functionality of the affected area. ...

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

Current differentiation protocols have not been successful in reproducibly generating fully functional human beta cells in vitro, partly due to incomplete understanding of human pancreas development. Here, we present detailed transcriptomic analysis of the various cell types of the developing human pancreas, including their spatial gene patterns. We integrated single-cell RNA sequencing with spatial transcriptomics at multiple developmental time points and revealed distinct temporal-spatial gene cascades. ...

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

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. ...

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

ClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis. ...

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

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet. ...

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

Melinda Judge, Erica Parker, Denise Naniche, Lucia Pastor, Kim W Carter, Denise Anderson, Peter LeSouëf.   This is the largest acute HIV cohort recruited in sub-Saharan Africa, the first study to use the RNA-seq platform to investigate gene ...

• 1. Telethon Kids Institute
• Our research
• Expertise and technologies
• Bioinformatics

The Childhood Leukemia International Consortium (CLIC) was established in 2007 to promote investigations of rarer exposures, gene-environment interactions... ...

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

Cancer immunotherapy has shown impressive results, but most patients do not respond. ...

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

The objective of this study was to elucidate the molecular networks that underpin virus-induced exacerbations in asthmatic children in vivo. ...

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

CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations... ...

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