We aim to improve knowledge and understanding of Rett syndrome by monitoring patterns of occurrence, investigating its impact on daily living and health, determining relationships between genotype and clinical characteristics, and identifying use and effectiveness of treatments.
We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family. We are also developing resources for health professionals who care for those with Rett syndrome.
Rett syndrome affects approximately 1 in 9,000 female births in Australia
Rett syndrome is caused by mutations on the MECP2 gene
The clinical presentation of Rett syndrome is variable