It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing... ...

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

Post kala-azar dermal leishmaniasis (PKDL) is a cutaneous form of disease that develops at variable times after individuals have received treatment. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• January 2010

Measles virus causes severe morbidity and mortality, despite the availability of measles vaccines. Successful defence against viral pathogens requires early... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• June 2012

The cloning of herpesviruses as bacterial artificial chromosomes (BAC) has revolutionized the study of herpesvirus biology, allowing rapid and precise manipulation of viral genomes. Several clinical strains of human cytomegalovirus (HCMV) have been cloned as BACs; however, no low-passage strains of murine CMV, which provide a model mimicking these isolates, have been cloned. Here, the low-passage G4 strain of was BAC cloned. G4 carries an m157 gene that does not ligate the natural killer cell-activating receptor, Ly49H, meaning that unlike laboratory strains of MCMV, this virus replicates well in C57BL/6 mice. ...

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

Supplementation with fish oil may only significantly increase DHA in minor allele carriers of FADS1 SNPs ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• October 2018

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. ...

• 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. ...

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

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. ...

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

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. ...

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

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

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