Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers ...

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

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. ...

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

Team Leader, Clinical Epigenetics ...

• 1. Telethon Kids Institute
• Contact us
• Our people
• Staff Profiles - M

Although genetic and epidemiological evidence indicates vitamin D insufficiency contributes to multiple sclerosis (MS), and serum levels of vitamin D increase on treatment with cholecalciferol, recent metanalyses indicate that this vitamin D form does not ameliorate disease. Genetic variation in genes regulating vitamin D, and regulated by vitamin D, affect MS risk. ...

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

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. ...

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

This study was the first to concurrently identify middle ear pathogens in both bacterial biofilm and intracellularly in the middle ear mucosa of children and to identify extensive DNA stranding in the MEF from children with AOM ...

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

The glutathione S-transferase enzymes (GSTs) play an important role in the detoxification of environmental tobacco smoke (ETS), which contributes to airway infl ...

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

The purpose of this review is to examine the role of innate immunity in the lungs in the development of allergy and asthma. ...

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

The Deep Genome Project—to deliver the functional biological annotation of all human orthologous genomic elements in mice ...

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

Continuous complete clinical remission in T-cell acute lymphoblastic leukemia (T-ALL) is now approaching 80% due to the implementation of aggressive... ...

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