Diabetes in pregnancy is associated with increased risk of long-term metabolic disease in the offspring, potentially mediated by in utero epigenetic variation. Previously, we identified multiple differentially methylated single CpG sites in offspring of women with gestational diabetes mellitus, but whether stretches of differentially methylated regions can also be identified in adolescent GDM offspring is unknown. ...

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

Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@telethonkids.org.au Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology Timo ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Precision Health
• Computational Biology

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

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

Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin... ...

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

The aim of this study was to determine whether supplementation with fish oil-derived n-3 PUFA during pregnancy modifies modifies placental PUFA composition... ...

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

Group A Streptococcus (GAS) is a Gram-positive bacterial pathogen that causes an array of infectious diseases in humans. Accumulating clinical evidence suggests that proinflammatory interleukin (IL)-1beta signaling plays an important role in GAS disease progression. ...

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

The purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort ...

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

In this study, the influence of genome-wide measured single nucleotide polymorphisms (SNPs) was investigated in 3 cohorts (total N = 4,596 children) in which... ...

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

The rise in IgE-mediated food allergy in recent times is the likely result of gene-environment interactions mediated via epigenetic pathways. ...

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

Genomewide expression profiling approach identified a comprehensive set of candidate biomarkers with pan-cancer potential ...

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

Our previous neurocognitive studies of schizophrenia outlined two clusters of affected subjects-cognitively spared (CS) and cognitive deficit (CD), the... ...

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

Our data demonstrate a causal relationship between activating Pik3ca mutations and the genesis of venous malformations ...

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