Research

Australia is only a very small part of the international Rett syndrome community so it follows that the RSAA support for research will always be focused on Australian researchers and that most research will be funded and undertaken in the USA and Europe.

The RSAA is always looking for current research publications and as soon as we are aware of them we will post them on our Facebook page and in our Latest News on our website.

However, as our resources are limited we believe the best thing we can do for the Australian Rett syndrome community is to provide links to very reliable and reputable Rett Syndrome research and the following links are intended for that purpose.

Rett UK

Rett UK aims to promote, support and encourage research to enable improvements in identifying new therapies and treatments for people affected by Rett syndrome and ultimately a cure. Whilst our current focus is on providing support, advice and information we do also fund research.

We regularly update our website and also our social media pages with information from around the world with regards to Rett syndrome research and treatments.

For more information follow this link: https://www.rettuk.org/research/

International Rett Syndrome Foundation

Rett syndrome is an incredibly complex disorder. We believe that a cure will require pursuing multiple treatments, including gene therapy, treatment medications and neuro-habilitative therapies. Our research strategy targets every possible approach.We remain committed to creating solutions for today, while we work to create a world without Rett syndrome tomorrow.

For more information follow this link: https://www.rettsyndrome.org/research/

Rett Syndrome Research Trust

All of us at the Rett Syndrome Research Trust (RSRT) want a cure for Rett Syndrome as urgently as you do. During the past 12 years, with the support of dedicated Rett families, we’ve advanced the most promising curative approaches.Every single company pursuing a cure for Rett is able to do so because they leveraged discoveries and resources that were incubated with RSRT funding.

Now is the time to leverage the momentum and excitement that surrounds Rett research by doubling down and expanding our efforts. We will not rest until we have a cure.

For more information follow this link: https://reverserett.org/research/

Laboratory of Human Neurogenetics (France)

Our laboratory is located in “La Timone” Medical School in Marseilles, in a research unit of the French Institute for Health and Medical Research (INSERM) and of Aix-Marseille University.Our research unit is called “Medical Genetics & Functional Genomics”.

Our group is particularly focused on Rett syndrome (RTT), severe intellectual deficiencies and developmental and epileptic encephalopathies (DEE).

For more information follow this link: http://www.germaco.net/Accueil_gb.html

Participate in AussieRett

How Can You Participate? AussieRett is the Australian Rett syndrome research study. We collect information on Australian individuals with Rett syndrome from both families and clinicians. If you would like to learn moreplease feel free to contact us.

For more information follow this link: https://rett.telethonkids.org.au/join-now/aussierett-participation/

Participate in InterRett / MECP2 Duplication Research

How Can You Participate? The InterRett and MDBase are important databases for the collection of health-related information on Rett syndrome and MECP2 duplication syndrome respectively. You can participatein our research from anywhere around the world. If you are interested in being involved, please register your contact details at the registration page.

To register with InterRett, follow this link: https://rett.telethonkids.org.au/join-now/interrett-participation/

Rett Research Australia

Rett Research Australia raises awareness and support for the development of a cure for Rett syndrome. This research effort is currently led by one of Australia’s foremost experts on Rett syndrome, Dr Wendy Gold, who has devoted nearly a decade to studying the pathogenic mechanisms of Rett.

For more information follow this link: http://rettresearch.org.au/#about

Murdoch Children’s Research Institute – Professor John Christodoulou

John Christodoulou is internationally regarded for his clinical and laboratory research into Rett syndrome (RTT), a devastating neurodevelopmental disorder predominantly affecting females, for which there is currently no effective treatment. He has been instrumental in enhancing our understanding of the correlation between the clinical features of RTT and specific mutations in the gene responsible for most cases, namely MECP2. In addition, he established RettBASE (http://mecp2.chw.edu.au), a highly regarded mutation database, which has proved to be very useful for clinicians and researchers.

For more information on Professor Christodoulo’s research please follow this link: https://www.mcri.edu.au/users/john-christodoulou

PubMed

PubMed is a free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. The United States National Library of Medicine at the National Institutes of Health maintain the database as part of the Entrez system of information retrieval. https://pubmed.ncbi.nlm.nih.gov/

Google Scholar

Google Scholar is a freely accessible web search engine that indexes the full text or metadata of scholarly literature across an array of publishing formats and disciplines. https://scholar.google.com