The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• June 2008

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• September 2007

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• July 2006

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• April 2006

Leading infectious diseases researcher, Clinical Associate Professor Deborah Lehmann AO, has been named a finalist for the Australian Museum Eureka Prizes for her work training and mentoring a new generation of researchers. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2019
• July

It’s only 18 years since the CDKL5 Deficiency Disorder was identified by Australian researchers as an independent disorder, and while some advances ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2022
• In the pipeline

Delivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine. ...

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

Cardio-oncology is a new multidisciplinary area of expertise that seeks to pre-emptively and proactively address cardiac complications that emerge during and following cancer therapy. Modern therapies including molecular targeted therapy and immunotherapy have broadened the agents that can cause cardiac sequelae, often with complications arising within days to weeks of therapy. ...

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

Both vector and mRNA vaccines were an important part of the response to the COVID-19 pandemic and may be required in future outbreaks and pandemics. The aim of this study was to validate whether immunogenicity differs for adenoviral vectored (AdV) versus mRNA vaccines against SARS-CoV-2, and to investigate how anti-vector immunity and B cell dynamics modulate immunogenicity.  ...

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

We assessed the utility of routine viral surveillance for cytomegalovirus, Epstein–Barr virus and human adenovirus in children <16 years, undergoing autologous stem cell transplantation (ASCT) at a single centre over a 10-year period. A total of 85 ASCT were performed in 65 patients. ...

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