X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life. ...

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

Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder that arises as a consequence of mutations in the STK11 gene that encodes LKB1. ...

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

Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications.  ...

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

The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic... ...

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

The increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the... ...

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

Cystic fibrosis (CF), due to pathogenic variants in CFTR gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same CFTR variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria Pseudomonas aeruginosa. ...

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

Investigators: Professor Aleksandra Filipovska, Dr Stefan Siira Project description  This project will focus on new and cutting-edge development of methods and technologies for data integration, visualisation, and interpretation. The project will ...

• 1. Telethon Kids Institute
• Projects

IRF7 regulates the expression of genes involved in antiviral immunity, inflammation, and the response to oxidative stress during HRV infections in HBE cells ...

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

We derived a simple ordinary differential equation-based model using Michaelis–Menten Kinetics to process the microarray data ...

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

Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos. ...

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

Our data suggest that the PDGFRA locus does not transfer a major risk of corneal astigmatism in people of Northern European ancestry. ...

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

The human placenta is a rapidly developing transient organ that is key to pregnancy success. Early development of the conceptus occurs in a low oxygen environment before oxygenated maternal blood begins to flow into the placenta at ~10–12 weeks’ gestation. This process is likely to substantially affect overall placental gene expression. Transcript variability underlying gene expression has yet to be profiled. ...

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