The Genetics and Health Team's priorities lie in understanding the biological mechanisms behind development of a range of rare and complex diseases, to help improve diagnosis, treatment and prevention both in Australian populations and internationally. ...

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

Aleksandra Filipovska AF BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for ...

• 1. Telethon Kids Institute
• Projects

This study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is... ...

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

Professor Alex Brown said improving access to genomic medicine for Indigenous Australians is a significant part of the Closing the Gap strategy ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2023
• Collaboration

Discover. Prevent. Cure. The Wal-yan Respiratory Research Centre conducts research into a wide range of childhood respiratory disease areas, with a ...

• Wal-yan Respiratory Research Centre

Aspergillus species and P. aeruginosa are commonly present in the lower airways from infancy ...

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

Meningococcal vaccines Quick Facts   MenB vaccine Quadrivalent (ACWY) meningococcal vaccines Description The MenB vaccine (Bexsero; Novartis Vaccines ...

• Wesfarmers Centre of Vaccines & Infectious Diseases
• Resources for parents

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

Jenefer Timo Sarra Genevieve Jonathan Blackwell Lassmann Jamieson Syn Carapetis AM JM T SE GS JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation. ...

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