Copy number alterations (CNAs), resulting from the gain or loss of genetic material from as little as 50 base pairs or as big as entire chromosome(s), have been associated with many congenital diseases, de novo syndromes and cancer. It is established that CNAs disturb the dosage of genomic regions including enhancers/promoters, long non-coding RNA and gene(s) among others, ultimately leading to an altered balance of key cellular functions. ...

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

Liz Carol Ursula Milne Bower Kees E C UR MPH PhD MBBS MSc PhD FAFPHM DLSHTM FPHA PhD Honorary Emeritus Fellow Senior Principal Research Fellow, Alcohol and Pregnancy & FASD Research; Director, FASD Research Australia CRE Honorary Emeritus Fellow 08 ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Child Epidemiology

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

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

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy ...

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

Asthma exacerbations in children are associated with respiratory viral infection and atopy, resulting in systemic immune activation and infiltration of immune cells into the airways. The gene networks driving the immune activation and subsequent migration of immune cells into the airways remains incompletely understood. Cellular and molecular profiling of PBMC was employed on paired samples obtained from atopic asthmatic children during acute virus-associated exacerbations and later during convalescence. ...

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

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

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

Jonathan Tim Carapetis AM Barnett JR TB AM MBBS FRACP FAFPHM PhD FAHMS PhD Executive Director; Head, Strep A Translation; Co-Founder of REACH Head of the Strep A Pathogenesis & Diagnostics team, Deputy Director of the Wesfarmers Centre of Vaccines ...

• 1. Telethon Kids Institute
• Projects

Combining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome. ...

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

Background Evidence relating childhood cancer to high birthweight is derived primarily from registry and case-control studies. ...

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

The NUT midline carcinoma (NMC) is a rare but fatal cancer for which systematic testing of therapy options has never been performed. ...

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

Recruiting control subjects who are representative of the population from which the cases are drawn is a challenge in case-control studies ...

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• 1. Telethon Kids Institute
• Projects