First published Saturday 19 October 2013.
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To find out any more information about how you can be involved, don't hesitate to contact us.
Email: Helen.Leonard@telethonkids.org.au
Phone: +61 419 956 946 | +61 8 6319 1761
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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.
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 Engerstrom from 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 Coenraads from 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:
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.
First published Saturday 19 October 2013.
To find out any more information about how you can be involved, don't hesitate to contact us.
Email: Helen.Leonard@telethonkids.org.au
Phone: +61 419 956 946 | +61 8 6319 1761