Here you'll find the latest news updates from the International Rett Syndrome Study.
06 September 2016
Our AussieRett team recently visited Melbourne, Australia for the International Association for the Scientific Study of Intellectual and Developmental Disabilities (IASSIDD) 15th World Congress.
The team presented information on:
-Data linkage in Western Australia
-Quality of life in children with intellectual disabilities
-The need for international rare disease registers to study individual rare disorders associated with intellectual disabilities
-Sleep problems in Rett syndrome and the CDKL5 disorder
Pictured below is Helen's panel discussion regarding the "Genetic architecture of neurodevelopment disabilities".
To see the full congress program, please click here:
08 June 2016 - Thank you to all guests and participants of this year's 8th World Congress on Rett syndrome, which was held from May 13-17th, 2016 in Kazan, Russia.
For more information, please visit their website:
To see the congress program, please click here:
For more photos from Kazan, please click here:
Helen also attended a press conference, which was aired on
19 November 2015 - Our InterRett team visited Geelong, Australia to attend the first ever Rett Syndrome Association of Australia national conference, themed "The Rett Syndrome Journey: Pathways to Follow".
Speakers explored aspects of communication, health, therapies, education, caring for the carer, government initiatives, trusts, siblings and family, adulthood, and equipment.
Click here for more information about the conference's key speakers: http://www.rettaustralia.com/2015-australian-conference/
During the conference, Helen spoke about the contribution families like yourselves have made to research outcomes in Rett syndrome, through your participation in our ongoing investigations.
To watch Helen's presentation, please CLICK HERE: https://www.youtube.com/watch?v=cQPgmAhXyis
15 September 2015 - "The InterRett database: Looking back and looking forward. What we have done and can do with your involvement!"
Click the photo below to download Dr Helen Leonard's online webinar hosted by Rettsyndrome.org
During this webinar Dr Leonard will give a background and history of InterRett; provide examples of what the study has achieved in the past with your input; describe the aims and rationale for our new study; and discuss how old and new families can join us in this endeavour. We will show you how you can view graphs on our website that display the core Rett syndrome features and their relationships with genotype. We will also point you to our research snapshots where you can find easy-to-read summaries of our publications.
Please note: This video file may take a few minutes to download, depending on the speed of your Internet connection. The video can be viewed by your computer's media player (e.g. Windows Media Player, VLC, Quicktime). If you have any difficulties viewing the video, please email us at: Rett@telethonkids.org.au
23 March 2015 - The Silent Angel
Taylor is a remarkable young woman who is leading an active country life with the support of her family and the local community. Taylor has Rett syndrome and her family have been participating in AussieRett since she was a toddler. Now 17 years of age, she has just graduated from high school and been named Blackall's Young Citizen of the Year - an area in Western Queensland, Australia. Journalist Brendan Mounter from the ABC spent time with her and her family and produced this great television story.
You can watch it here: http://ab.co/19Jx6xx
5 December 2014 - "You can't stop loving them" - a grandmother's story about her granddaughter who has Rett syndrome (the article was published earlier this year in The West Australian )
Click on the picture to read the whole story!
2 November 2014 - High Tea for Rett Syndome at Caversham House
Thanks for everyone who have contributed to and participated in this wonderful event to raise much needed funds to support Rett Syndrome research! More information and photos of the event could be found at this facebook page.
Video (Click on the picture below to open the video in the new window)
25 May 2014 - HBF RUN FOR A REASON
On Sunday May 25th, the 'I love someone with Rett syndrome' team participated in the annual HBF Run for a Reason. The team of Perth friends and researchers was led by Caroline Fitzpatrick, mother of Charlotte. This website will continue to receive donations for Rett syndrome research until the 30th June 2014.
Helen and Jenny visited Shenzhen in the south of China twice during 2013 to talk with clinicians at the Shenzhen Children's Hospital and the families from the Shenzhen Rett Syndrome Family Association. This is a wonderful opportunity to make links with those affected by Rett syndrome in our region. They are also keen to collaborate in a small study in which we will assess the effects of early intervention on young girls with Rett syndrome. We are hoping that the pilot study will begin in January 2014.
Following last year's World Rett Syndrome Congress held in New Orleans, the 3rd European Rett Syndrome Conference was held in the Netherlands over 3 days. Dr Helen Leonard and Dr Jenny Downs were both keynote speakers. Dr Alison Anderson and PhD students Anna Urbanowicz and Stephanie Fehr also presented.
The conference was mainly about Rett syndrome, but also included presentations on the CDKL5 and the MECP2 Duplication disorders. The conference was wide ranging in its topics and there was a focus on communication, autonomic problems and ageing. Here are just some of the highlights:
In Rett syndrome, we hear a great deal about the MECP2 gene and its influences.Dr Willem Vonckenfrom the Netherlands discussed epigenetics which is the study of how environmental factors can influence how a gene works. For example, both queen bees and worker bees have the same DNA but they develop and function differently according to whether or not they eat royal jelly. The specific structure of our genes is important but there is growing awareness of how other factors in the cells or in the wider environment can influence the work of a gene. Research in this area could be helpful for Rett syndrome.
Ingegerd Witt Engerstromfrom Sweden gave an overview of points to consider during clinical management. She discussed how the brainstem had important influences on breathing difficulties and coordination of movement. One of her recommendations was to includeregular and joyful activitieswithin daily routines.
Monica Coenraadsfrom the Rett Syndrome Research Trust, USA described how we were living in a golden era for understanding rare disorders and that our growing biological understanding is opening doors for treatments in the future. She gave an overview of their very comprehensive research program. The five broad themes of the types of treatments being investigated included:
- methods of improving the proportion of activeMECP2that do not have the mutation (reducing unfavourable X inactivation);
- working on gene therapies where healthy genes are delivered via vectors such as viruses;
- boosting MeCP2 levels - testing drug compounds that might for some mutations change the folding of the proteins in the cells and make the MeCP2 function better;
- testing drugs that might influence other genes and result in better function. A clinical trial is being planned to test statins in improving function in Rett syndrome; and
- testing drugs that can impact the proteins thatMECP2would be influencing.
It was encouraging to hear of the systematic research that is investigating these potential treatments. However, it is important to remember that the biological pathways are very complex, there is still much work to be done, and researchers need to be very sure that any new treatments are safe and do not cause new problems.
Professor Walter Kaufmannfrom Boston Children's Hospital gave an update of the progress of the IGF2 clinical trial. The phase 1 clinical trial has been completed with 12 girls participating and the drug was thought to be safe and well tolerated. They are now in the early stages of a phase 2 clinical trial and are in the process of enrolling patients.
ABC'S 7.30 REPORT, MAY 31ST 2013
On Friday evening, the ABC's 7.30 Report in Western Australia featured the stories of two WA families and their personal experience with Rett syndrome. Also featuring Dr Helen Leonard and Dr Jenny Downs from the study team, this piece went a long way towards raising awareness in the community. Click the link below to see the report.
HBF RUN FOR A REASON MAY 26TH 2013
What a fabulous day we had on Sunday at the HBF Run for a Reason in Perth, where Rett syndrome was extremely well represented! The weather was delightful, and the course scenic, providing a great opportunity to raise awareness of Rett syndrome, and allowing family and supporters of the cause to get together for a relaxing and fun morning. The teams had T-shirts made, which turned out fabulous, and I'm sure went a long way to raising awareness of Rett syndrome.
The 'Rett Pack for a Cure' team have raised a whopping $8,475 so far, with the 'Rett syndrome study' team adding an additional $2,010. That is over $10,000 that will go toward the Australian Rett Syndrome Study!! An absolutely amazing achievement for all involved. The fundraising pages will still be available until the end of June, so it's not too late to contribute!
Click here to donate to the 'Rett Pack for a Cure' fundraising efforts.
Click here to donate to the 'Rett syndrome study' team.
HBF Run For A Reason
On May 26th 2013 the annual HBF Run for a Reason will be taking place in Perth. This annual event offers a choice of two courses. A 4km scenic run or walk takes participants along Riverside Drive, finishing in Gloucester Park, or the longer 12km run or walk circles the Northern end of the CBD, before heading out East. It then takes the runners and walkers South across the Swan River, before heading back towards the city, passing the Burswood resort.
HBF Run for a Reason allows all participants to nominate a charity of choice to fundraise towards, and fundraising pages are set up on the website to allow people to donate towards each cause. Currently there are two pages fundraising for the Australian Rett Syndrome Study.
The Rett Pack for a Cure are attempting to raise $2,000 for the Australian Rett Syndrome Study. Visit their fundraising page to donate towards her target.
Also, two members of our very own project team here at the Institute and their families are participating. Visit the Rett syndrome fundraising page to donate.
Alternatively, donations can be made directly to the study by visiting our Everday Hero fundraising page, which is available year round.
We look forward to cheering on the whole team on the big day….
Meeting with families in China
Professor Helen Leonard and Dr Jenny Downs recently visited Shenzhen in China to meet Chinese families with a daughter with Rett syndrome and child neurologists from the Shenzhen Children's Hospital. The meeting was organized by the Rett Syndrome Family Association and was the first with international speakers. Professor Leonard spoke about the clinical presentation of Rett syndrome and how it can be studied. Dr Downs spoke about motor skills and their development and how they can be assessed and managed. This was a wonderful opportunity to meet girls with Rett syndrome and their families, to promote understanding about Rett syndrome, and to develop relationships with both families and clinicians for future efforts to improve outcomes for those affected by Rett syndrome.