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.




"Charting the Course" The Seventh World Rett Syndrome Congress - New Orleans, June 22-26 2012

The International Rett Syndrome Foundation will be hosting this prestigious event bringing together families, clinicians, researchers, health professionals and educators together from around the world to share their knowledge and experience of Rett syndrome. For more information about the Congress click here. Dr Helen Leonard, Dr Jenny Downs and other members of the Australian Rett Syndrome Study Team will be attending and presenting at this important meeting.



Australian Rett Syndrome Family Conference 

The Australian Rett Syndrome Study, with support from the Rett Syndrome Association of Australia was proud to host the Australian Rett Syndrome Family Conference in May 2012. Timed to coincide with the International Child Neurology Congress and held at Riverglenn in Indooropilly over 165 family members, clinicians, researchers, health professionals, care workers and educators met to discuss the latest research and clinical findings and practical recommedations for children and adults with Rett syndrome.


Families attended from every state and territory of Australia, several bringing their children who were undoubtedly the stars of the show! Families were very much involved in the planning, organising and running of the event with a number parents speaking on both days about respite, advocacy and developmental issues.




High Tea for Rett Syndrome
The first ever fund-raising event to support the Australian Rett Syndrome Study was held in Perth on November 8th, 2010. Teresa Pracilio, mother of Kayla (2 years) organised a "High Tea for Rett Syndrome" at a central city hotel and all 500 tickets were sold. There were fabulous sandwiches and cupcakes to eat, juice and cups of tea to drink, and a family atmosphere with extra activities such as face painting, balloon sculpture, henna painting and much more for everyone to enjoy. This was a great social opportunity for families and researchers to get together.





World Rett Syndrome Congress - Paris, October 2008
This was a global meeting of leaders in the areas of Rett syndrome research, clinical care, and the role of parent associations. It was a scientific symposium plus family support, education and awareness conference all rolled into one. The meeting combined plenary talks with multiple concurrent scientific sessions and workshops, complemented by research poster boards and parent association information booths. Over the course of 4 days, many presentations were delivered demonstrating where research has brought us in the nine years since discovering the genetic cause of Rett syndrome. Many of the sessions were recorded, and after final permissions are secured, these sessions or handouts will be available online for everyone to view.

The meeting opened with talks given by Drs. Huda Zoghbi and Adrian Bird, two researchers who have made seminal discoveries in the field. Dr. Zoghbi along with other investigators in 1999 identified the MECP2 gene as responsible for the majority of cases of Rett syndrome. Since that time her work has been devoted to understanding the function of MeCP2 with a focus on interactions with other nuclear signaling molecules. Dr. Adrian Bird gave an overview of the structure and function of MeCP2 and described how MeCP2 acts as a "brake" on gene expression. He focused on showing precisely how MeCP2 interfaces with DNA in order to repress the transcription of genes. Dr. Bird also discussed his lab's finding in 2007 that Rett Syndrome is potentially reversible through the work done using specific mouse models of the disease.

Using genetic Mecp2 "knockout" mouse models has uncovered the underlying neurological changes of those affected by Rett syndrome. This meeting also shows the important need for new mouse models that more precisely model the different mutations that occur in girls with Rett syndrome. The conference highlighted how much more is now known about the role and function of the MeCP2 protein in human nervous system development. It follows then that if we can fully understand the role of MeCP2 when it is working correctly, we will have a better path towards repairing, bypassing, or overriding dysfunctional forms of MeCP2. Part of the meeting focused on relationships between genotype and phenotype- essentially determining how different mutations and modifiers appear to impact the severity of Rett syndrome. meeting also outlined the range of Rett syndrome severity; females and males show differences in age of onset, degrees of severity and there is a wide spectrum of different presentations, from mild learning disabilities to classic Rett syndrome. Mutations that arise in genes other than MECP2- such as CDKL5 and FOXG1 - are also now implicated in causing a Rett-like disorder. These might shed light on pathways that are upstream or downstream of MeCP2. All of this information increases our understanding of the disorder and leads researchers in new directions. Several presentations and sessions were offered around medical issues and clinical/therapeutic care in Rett syndrome, including seizure/epilepsy management; breathing issues; scoliosis and bone health; and gastro-intestinal problems. The benefits of therapies ranging from physical therapy to music therapy and communication strategies were also addressed.

The internet is emerging as a valuable tool for researchers to gather data on rare diseases. Our own Dr. Helen Leonard discussed the AussieRett and InterRett online databases, which have greatly expanded clinical research on Rett syndrome. Dr. Leonard's presentation discussed the great value in combining data from different sources through initiatives such as the international database InterRett. Through the use of this internet database, families and clinicians from around the world can contribute their information and help researchers gather enough data to make statistically relevant analyses possible.

An overriding take-home message from this Congress was the need for ongoing international collaborations. Time and funds are not put to their best when we work in isolation, or too competitively. No single lab or clinic sees enough patients to reach statistically meaningful numbers. In order to launch real clinical trials, we need to build shared datasets, make clinical assessments using the same criteria, and keep the needs of those affected by Rett syndrome and their families at the centre of the work.

In the concluding talk, Dr. Carolyn Schanen summarized some potential treatments that are on the horizon for those with Rett syndrome. These include new compounds that seek to target non-sense mutations, gene-based therapies and other therapies that target neuronal growth factor systems.
The next World Congress will take place in North America in 2012.
For more information follow this link, 6th World Rett Syndrome Congress




ARACY Workshop - Perth, 2nd - 3rd November 2007
Leaving School: Maximizing participation and life outcomes in youth with an intellectual disability transitioning from secondary school to adult life.
Venue: Telethon Institute for Child Health Research 100 Roberts Rd, Subiaco WA.

For more information on ARACY click on the following link Australian Research Alliance for Children & Youth (ARACY)



China - Australia Workshop - Beijing, September 2007
In September 2007 a China-Australian workshop was conducted in Beijing. This event was funded by a travel grant awarded to InterRett from the Australia-China Fund for Science & Technology Cooperation to build on their existing relationship with Professors Wu and Bao.
With a population of ~1.3 billion it is estimated that around 1000 cases of Rett syndrome would occur each birth year in China. Therefore one would estimate there to be ~30, 000 cases aged 30 years and under. To date in total only ~ 200 cases have been diagnosed. Professor Wu diagnosed the first of these in 1987.

The workshop was attended by InterRett directors Dr Helen Leonard and Prof Sue Fyfe, as well as Dr Le Jian and Alison Anderson who is the project co-ordinator.

President of the IRSA visits Australia - Sydney, April 2007

Kathy Hunter, Founder and President of the International Rett Syndrome Association visited Sydney, Australia. Her visit was organised by Bill Callaghan, president of the Rett Syndrome Association of Australia.





Building International Relationships - Around the World, 2006
In May, 2006 Dr. Helen Leonard and Alison Anderson met with Rett syndrome researchers and organisations from all corners of the world, including Hong Kong, San Francisco, Victoria Island and Montreal in Canada, Cardiff and Glasgow in the U.K, and Paris! The aim of the visit was to meet with researchers and doctors to encourage collaborative research and gather new families to participate in the InterRett project.
'Bridges of Hope', the IRSA family conference in San Francisco was a highlight and we welcomed a further 36 American families to InterRett! The importance of InterRett was recognised by IRSA and they are keen to continue funding and promotion of the project.
Helen and Alison also attended the Clinical Trials in Rett Syndrome International Workshop in San Francisco. Here researchers from all over the world discussed issues relating to clinical trials in Rett syndrome including therapeutic targets, outcome targets, recent genetic research, early intervention, and the relationships between genetic mutations and symptoms.





Rett syndrome workshops for Parents and Children - November 2005
The Australian Paediatric Surveillance Unit held workshops for parents and clinicians at the Kerry Packer Institute for Child Health Research, Westmead NSW.
The Parent workshop was held on Sunday November 20, from 8.30 am - 5.30 pm. This workshop included specialist speakers and discussion of issues such as scoliosis, epilepsy and how your family data contributes to Rett syndrome research.
The Clinician workshop was held on Monday November 21, from 8.30 am - 5.00 pm. This workshop included specialist speakers and discussion of diagnosis, genetics, clinical management and the parents perspective.





Adelaide to Broken Hill Bike Ride - May 2001
This ride was a culmination of a huge amount of preparation by a team led by Mrs Barbara Allen, grandmother of Ashli. There were five riders including Olympic 2000 Gold Medallist cyclist Brett Aitken, Terry Aitken, Jeffrey Allen, Dr Declan Kennedy and 16 year old Steven Brine. The cyclists travelled through Gawler, Clare, Peterborough, Cockburn before reaching Broken Hill. In the week leading up to the event, Brett & Dr Helen Leonard spoke at the Sportsman's Dinner held on May 11th at Sferas On the Park at Modbury. Dr Leonard described to the audience the progress of research and plans for the future.
During the course of the cycle, the team stopped at schools along the way and Brett Aitken spoke about Rett syndrome with the aim of increasing awareness and raising funds for this debilitating disorder.

An evening at St Mary' s School - April 2001
As part of the calendar study a group of 52 girls from St Marys Anglican School in Perth completed a calendar and recorded their illnesses and medical appointments on a daily basis for a period of six months in 2001. To provide information about Rett syndrome the documentary "Silent Angels" was shown to a group of students, teachers and parents from the school. The evening hosted by Seonaid Leonard was extremely successful and the enthusiasm of students and parents was evident by their questions and the open discussion that followed.





WA launch of the video "Silent Angels" - Perth, December 2000
Approximately 120 families affected by Rett syndrome and health professionals attended a video night at the Telethon Institute for Child Health Research to launch the Silent Angels video. The aims of the evening were to increase public awareness, provide up to date knowledge about the genetic and other aspects of Rett syndrome. The evening was hosted by Olympic Gold medallist cyclist Brett Aitken.
An open forum followed the video which allowed parents and others to ask questions of a panel.

Neurological EXPO - Perth, 2000
The Australian Rett Syndrome Study set up a stand at the Neurological symposium held at Sir Charles Gairdner Hospital, Perth Western Australia with the aim of increasing awareness and providing information about Rett syndrome. This was another unique opportunity to promote Rett syndrome.

Perth Function - April 2000
On Sunday April 30th 2000, around 50 people including girls, their families, clinicians and therapists met at the brand new Telethon Institute for Child Health. After gathering for coffee, families moved into the seminar room where they listened to a variety of speakers who discussed various aspects of Rett syndrome.

Dr Helen Leonard gave an outline of how research had progressed over the last 7 years in Australia. Dr Lakshmi Nagarajan, (Paediatric Neurologist at Princess Margaret Hospital and Investigator in the Sleep Studies) discussed epilepsy and sleep disorders in Rett syndrome. Dr Mark Davis (Medical Scientist, Royal Perth Hospital) gave an outline of the genetics of Rett syndrome and updated us on the progress of the mutation testing. Dr Linda Slack-Smith (Senior Lecturer in Oral Health at the University of Western Australia) then spoke about her project "Oral Health Needs of Children with Disabilities" which she is carrying out with Dr Helen Leonard. This study is taking the form of focus groups and several WA Rett syndrome families have already taken part. Finally Bill Callaghan thanked the families and friends for coming.

Western Australian Birth Defects Symposium - Perth 2000
The WA Birth Defects Registry Symposium was held on Wednesday 27th and Thursday 28th 2000 at the Institute for Child Health Research in Perth to mark its 20th Anniversary. The WA Birth Defects Registry was established to collect high quality information about birth defects in Western Australia and is headed by Dr Carol Bower (who is also involved in the Australian Rett Syndrome Study).
Delegates to the Symposium came from local institutions as well as national and international research centers. They were treated to presentations covering a range of topics including Rett syndrome, neural tube defects and cerebral palsy. During the breaks and lunch periods delegates were able to view the presentations set up in the Atrium. A Rett syndrome display featuring posters on our research work was manned by Bill Callaghan. This was an excellent opportunity to promote Rett syndrome to other researchers.

For more information on any events listed above please contact us