International Rett Syndrome Phenotype Database (InterRett) in Nedlands, Western Australia | Disability service
International Rett Syndrome Phenotype Database (InterRett)
Locality: Nedlands, Western Australia
Phone: +61 08 419 956 946
Address: 15 Hospital Avenue 6009 Nedlands, WA, Australia
Website: https://rett.telethonkids.org.au
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25.01.2022 Imagine your baby girl is developing normally, then suddenly she starts losing skills. On average, one girl born each year in WA will develop Rett syndrome, a r...are neurological disorder which leads to severe physical and intellectual disability. The work of our researchers has had an enormous impact on the clinical understanding of Rett syndrome, both here in Australia and worldwide. Head to our topic page to learn more about the signs, treatment and latest research on this condition.
24.01.2022 Jenny Downs and Helen Leonard with Dr Michael Freilinger from Austria attending the 5th European Rett Syndrome Congress in Berlin, Germany.
15.01.2022 Last month, our PhD student Daniel sat down with a family in Japan whose lives have been impacted by MECP2 duplication syndrome. Naomi’s beautiful 6-year-old son Kanade was born with this debilitating neurodevelopmental disorder and was diagnosed at 2.5 years of age. Kanade’s family spoke with Daniel about their journey from realising something was not quite right with Kanade’s development to later identifying the cause. Achieving a diagnosis was a strenuous endeavour for K...anade’s family and it took them many years to find an answer. From this experience, it is clear that MECP2 duplication syndrome like many other conditions affects more than just the child. That is why our research is important. Families deserve to know as much as they can about the health of their children. While much is still unknown about MECP2 duplication syndrome, ongoing research will help to answer many of the questions we have today. Learn more about our Child Disability Research Team by visiting: https://www.telethonkids.org.au//disabil/child-disability/ Learn more about our research at the Telethon Kids Institute: https://www.telethonkids.org.au/
05.01.2022 Happy 2018 to all of our InterRett families! We are very excited to share our most recent InterRett newsletter with you all. Some families may have already received copies of our newsletter via email. Please feel free to share this digital copy with other families! If you are interested in joining our mailing list, participating in InterRett, or if your contact info, post mail or email address have recently changed, please send us an inbox message or contact us at: [email protected]
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