About
Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
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Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.
These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
MECP2 duplication syndrome is a rare, X-linked, neurodevelopmental disorder that, unlike Rett syndrome, is more likely to affect boys. There is still much that is not known about this disorder, so our team is working on better characterising its clinical features and natural history. To achieve this, our team has now launched the International MECP2 Duplication Database (MDBase) and we welcome you to be a part of this exciting initiative - the purpose of which is to collect information about the health and wellbeing of children and adults with this disorder. This much needed information will help us to understand what changes may occur with age and better inform discussions between parents and healthcare professionals.
To find out more about our research on MDS, visit: https://www.telethonkids.org.au/projects/the-natural-history-of-the-mecp2-duplication/
Our research is conducted over the internet so you can participate from anywhere around the world. If you would like to register in the MDBase or see how you can be involved, please register your contact details at the registration page.
To hear the story of a study family with two sons with MECP2 duplication syndrome please visit this facebook page.
To celebrate Rare Disease Day 2022 please visit https://www.youtube.com/watch?v=9z0hG-8LOYE to watch the story of a MDBase study family from Andorra, Spain.
To read our comprehensive review on the history of MECP2 duplication syndrome, please visit: https://rdcu.be/cJv2T