International Rett Syndrome Phenotype Database (InterRett)

28/02/2022

Today is Rare Disease Day (28 Feb) and the Child Disability Team would like to share a short documentary made by one of their research families in Andorra, Spain. who have a son with MECP2 duplication syndrome (MDS). MDS is a rare childhood disorder and there are only two cases in Western Australia – to learn more, visit https://www.youtube.com/watch?v=9z0hG-8LOYE

This short documentary tells the story of Aleix and his family. Aleix is a happy little boy, affected by the MECP-2 Duplication Syndrome. A rare genetic diso...

23/09/2019

Dr Helen Leonard meeting with MECP2 Duplication families in Tokyo, Japan.

Our team currently has an International MECP2 Duplication Database under development.

20/12/2018

Season's Greetings everyone!

Our heartfelt thanks to the many amazing families who have contributed to the International Rett Syndrome Database during 2018 and are helping us to continue to build important knowledge about this disorder.

If we haven’t been in touch with you and your family this year and you’d like to contribute further, please do make contact with Dr Helen Leonard at:

Email Helen.Leonard@telethonkids.org.au or CDKL5@telethonkids.org.au

or Text Helen at 61419956946

or Message us on Facebook

20/12/2018

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 Kanade’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/our-research/brain-and-behaviour/disability/child-disability/

Learn more about our research at the Telethon Kids Institute: https://www.telethonkids.org.au/

28/05/2018

A severe neurodevelopmental disorder mostly affecting girls.

04/01/2018

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: Rett@telethonkids.org.au

06/11/2017

Jenny Downs and Helen Leonard with Dr Michael Freilinger from Austria attending the 5th European Rett Syndrome Congress in Berlin, Germany.

02/11/2017

Helen Leonard with Claude Buda from the Rett Syndrome Association of Australia and Tam and Inge from the Rett Syndrome Comprehensive Research Institute in China preparing for the 5th European Rett Syndrome Congress in Berlin, Germany.

28/10/2017

Congrats to Telethon Kids researchers Dr Helen Leonard & Dr Jenny Downs on the publication of 'Rett Syndrome'

https://twitter.com/telethonkids/status/923428014540464128

“Congrats to Telethon Kids researchers Dr Helen Leonard & Dr Jenny Downs on the publication of 'Rett Syndrome': https://t.co/UKzYUUGNkQ”

31/07/2017

We recently had the pleasure of holding an afternoon tea for families of children with Rett syndrome and MECP2 Duplication syndrome. A big thank you to everyone who joined us!

25/07/2017

Our own Dr Helen Leonard was recently featured on Today Tonight. MECP2 duplication syndrome, which more frequently affects boys, is one of the Rett syndrome related disorders that our research group studies.

16/07/2017

Caroline Dempster and I (Claude Buda) representing the RSAA met with Prof Helen Leonard and Dr Jenny Downs of the Telethon Institute in Perth to join forces and work together in these exciting times to better inform and assist the Rett Community in Australia. Helen and Jenny have been working tirelessly over the years and are about to release another study to update their database to ensure we have the best possible information to help Australian children suffering from Rett Syndrome.

30/03/2017

24/03/2017

Dr Leonard is attending the International Symposium of Rett syndrome in Japan – a gathering of leaders in Rett syndrome research from all over the world. CLICK to learn more about Telethon Kids’ Rett syndrome research http://bit.ly/2nqhMQH

24/03/2017

24/03/2017

Dr Leonard is attending the International Symposium of Rett syndrome in Japan – a gathering of leaders in Rett syndrome research from all over the world. CLICK to learn more about Telethon Kids’ Rett syndrome research http://bit.ly/2nqhMQH

21/03/2017

Spotted! Telethon Kids Associate Professor Helen Leonard in Kobe, Japan.

Associate Professor Leonard has been presenting at the ‘International Symposium of Rett syndrome’ – a gathering of leaders in Rett syndrome research from all over the world. CLICK to learn more about Telethon Kids’ Rett syndrome research http://bit.ly/2nqhMQH

The Australian Rett Syndrome Study

28/02/2017

Click here to visit our new website: https://rett.telethonkids.org.au

Today, it’s Rare Disease Day – and we’d like to say a big THANK YOU to all those children (and their families!) that work with us as we seek to get to the bottom of some of the rarest diseases affecting children.

Like Marlee, who has been helping us with our research into the causes and best treatment of Rett syndrome, a neurological disorder that affects approximately 1 in 9,000 girls in Australia.

SHARE if you’re inspired by the bravery of children like Marlee.