The Ontario Rett Syndrome Association continues to expand and develop in new ways to support its members. Membership fees help make this possible!

2014 was an exciting year to be a part of the Ontario Rett Syndrome Association. Some of the highlights of our year were:

• Hosted the We “R” Family Conference with over 190 attendees traveling from 8 provinces to participate in the bi-annual educational event.
• Launched the Canadian Rett Syndrome Registry. This registry is important to families across Canada as future drug trials for Rett syndrome can only be implemented in Canada through an approved registry.
• Creation of The Hope Fund that exists solely for research. 100% of all these dollars will go to Rett syndrome research to find a cure and/or treatment for Rett syndrome. The Hope Fund is releasing a $50,000 research grant in early 2015.
• Hosted the first ever Canadian Rett Syndrome Symposium with 25 Canadian scientists, clinicians and provincial representatives. The symposium fostered collaboration between these individuals who have an interest in Rett syndrome and was funded by a grant from Canadian Institute of Health Research.
• Coordinated the first ever National Rett Syndrome Association meeting, bringing together 6 provincial associations to discuss collaboration on current and future initiatives.
• Hosted educational workshops, focused on communication and literacy strategies for individuals with Rett syndrome. These workshops were primarily funded by a grant from the Edwards Charitable Foundation.

O.R.S.A. is very proud to provide annual financial contributions towards the three Rett Syndrome Clinics in Ontario in order for them to continue to support the individuals living with Rett syndrome and acts as the representative for Rett syndrome nationally on Neurological Health Charities Canada.

As a member of O.R.S.A. you will receive access to the most up-to-date information on Rett syndrome and receive preferred rates at the bi-annual conference and/or any workshops offered. New parent/caregiver members receive a new parent package containing many great resources.

None of the above accomplishments would have been possible without your support. So please take a moment to renew your membership. If you are a family with an individual with Rett syndrome, who cannot afford the dues, you can still become members by indicating this on the form. Each and every membership matters!

MEMBERSHIP FORM TO DOWNLOAD AND MAIL

CLICK HERE FOR 2015 MEMBERSHIP 

Sincerely,

O.R.S.A. Board of Directors

With the overwhelming success of “Madi’s Yard Sale” in Medicine Hat, Alberta, three families from Edmonton, Alberta have decided to have their own Yard Sale to raise funds and awareness for Rett syndrome. Chris & Katie Smith, daughter Ella, Elana & Steve Terry, daughter Olivia and Michaela & Kelly Kleinsasser, daughter Lennox have organized a 2 day sale (July 3rd & 4th) at the Lendrum Community Hall in support of Rett syndrome. Katie says it is the first year but hopes it will be an annual event.

Thank you to these families for supporting all those living with this rare disorder and making a difference by ‘Building Healthy Tomorrows’. Fundraising does not need to be complicated, if your event educates one person about Rett syndrome then it should be considered a success! If you are interested in creating or supporting a fundraising event, please do not hesitate to contact fundraising@rett.ca for more information.

The Ontario Rett Syndrome Association (O.R.S.A.) is pleased to share with you exciting research news regarding Rett syndrome in Canada.  In addition to O.R.S.A.’s 2015 Research Grant, Structural Genomics Consortium (SGC) and the Ontario Brain Institute (OBI) have entered into an “open –source” research partnership and are providing funding to two Toronto-based hospitals to test tool compounds. Read More

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London, Ontario – March 27, 2015 –

The Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors has unanimously approved the funding of a $50,000 Research Grant to a joint grant application from Dr. Juan Ausio (Biochemistry and Microbiology, University of Victoria, BC) and Dr. John Vincent (Neurogenetics, University of Toronto).

Their application was one of several received and evaluated by O.R.S.A.’s Research Advisory Committee that comprised of prominent neurologists, geneticists and scientists from across Canada. It is entitled “Translational correlation of MeCP2 chromatin alterations in male and female missense mutations” and is a collaboration between two world-renowned investigators, with concise and achievable objectives.

The project revolves around the study of specific identified mutations in Rett syndrome (RTT) and aims to further the understanding of the pathogenesis of RTT and develop new insights into the factors affecting clinical phenotypes in RTT. DNA is the molecule responsible for the storage, retrieval and replication of the genetic material. In the nucleus of the cell, DNA interacts with proteins known as histones and the resulting association is called chromatin. In the brain, an additional highly abundant chromatin protein, MeCP2, is present that binds preferentially to methylated regions of DNA. Mutations of MeCP2 cause an impairment of the binding of this protein to DNA and hence to chromatin. Such alterations result in the Rett syndrome neurodevelopmental disease. Mutations of MeCP2 across the entire MeCP2 molecule are deleterious to different extents, all of them leading to Rett cases with different degrees of severity. However, neither the reason for this, nor the alterations of chromatin responsible, nor their relation to the extent of severity of the Rett syndrome outcomes are clearly understood. The idea behind this project is to combine the expertise of two well established groups in Canada working on MeCP2 and Rett syndrome to address such questions for two novel mutations of MeCP2:( Ala2Val) identified in three girls with classic Rett syndrome), and (Prol 52His) affecting the methyl binding domain (MBD)I, identified in an adult male with intellectual disability with additional comorbid features. This could potentially lead to further future studies aimed at discovering newer drug therapies.

The Hope Fund was established in 2014. This is the first grant being released from this fund and the largest grant released by O.R.S.A. to date. The funds for this research grant were raised through donations and fundraising activities. O.R.S.A. continues to support research excellence and the development of a wide scope of Rett syndrome research across Canada.

About Rett Syndrome

Rett syndrome is a neurodevelopmental condition characterized by the loss of spoken language and hand use, coupled with the development of distinctive hand stereotypies. This disorder is seen in infancy and occurs almost exclusively in females. It is usually caused by a mutation of the MECP2 gene on the X chromosome. Rett syndrome is found in all racial and ethnic groups throughout the world. It affects one in every ten thousand live female births. Early developmental milestones appear normal, but between 6-18 months of age, there is a delay or regression in development, particularly affecting speech, hand skills and gait. A hallmark of Rett syndrome is repetitive hand movements that may become almost constant while awake. Other more common medical issues encountered include epileptic seizures, muscle stiffness, osteoporosis and scoliosis. Despite its multiple handicaps, Rett syndrome is not a degenerative disease. Many individuals with Rett syndrome live long into adulthood. There is currently no cure.

About Ontario Rett Syndrome Association (O.R.S.A.)

The Ontario Rett Syndrome Association (O.R.S.A.) exists to ensure that children and adults with Rett syndrome are enabled to achieve their full potential and enjoy the highest quality of life within their communities.

Dr. Juan Ausio

Dr. Juan Ausió, Ph.D., is a Professor in the Department of Biochemistry and Microbiology, University of Victoria, BC, Canada. Dr. Juan Ausió’s research interests focus on structural characterization of biological macromolecular assemblies, and nuclear proteins with special emphasis on the chromosomal protein-DNA interactions. His current research include studies on histone-histone interactions, and histone/MeCP2-DNA interactions at the nucleosome level and at the higher order structure of chromatin in Rett’s syndrome and prostate cancer. Special attention is being paid to the influence of these interactions on biologically significant chemical modifications, both at the histone and at the DNA level (acetylation, phosphorylation, and methylation) and their epigenetic contribution.

Dr. John Vincent

Dr. John B. Vincent undertook his undergraduate studies in biochemistry at the University of Manchester. He completed his Ph.D. at University College London Medical School, London, in 1994, with Dr. Hugh Gurling, in the Department of Academic Psychiatry. Since then he has worked with Dr. James Kennedy in the Neurogenetics Section at the Clarke Division, Centre for Addiction and Mental Health (CAMH) in Toronto and with Dr. Stephen Scherer in the Dept. of Genetics at The Hospital for Sick Children, Toronto. Since 2002, he has worked as a Senior Scientist/Principal Investigator back at CAMH, and is a Professor in the Dept. of Psychiatry and cross-appointed in the Institute of Medical Science at the University of Toronto. His work is on the genetics of major psychiatric disorders, but with the main focus looking at the genetics and genomics of autism and intellectual disability, including Rett syndrome. In 2004, he co-authored a seminal paper on the identification of an alternative version of the Rett syndrome protein, MeCP2, with the implication that this new version is more relevant to Rett syndrome, which has since been shown by numerous studies to be correct (Mnatzakanian et al, 2004).

For more information:

Terry Boyd

President, O.R.S.A.

terry@rett.ca

rett.ca

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RETT SYNDROME SOCIETY OF BC

We at the Rett Syndrome Society of BC (RSSBC) would like to thank you for allowing us to attend not only your “We ‘R’ family” conference but also the Friday evening research meeting. RSSBC was able to make connections with local researchers, physicians and even a couple of families. However what we truly appreciate was the provincial organization meeting.

As a new organization just starting our second year we value all the information that was presented at these meetings. We were able to get know other Provincial representatives and trouble shoot common challenges that each province is currently faced with. It was great to see each organization all working on not only their own organizational goals but also to making a commitment to working together towards larger national goals such as the launch of the Canadian Rett Syndrome Registry.

The new registry is renewed hope for families within RSSBC. Our families have been under serviced for years and most have given up the thought of a cure within Canada. The Registry show to families that it’s possible and that we in BC and across Canada are doing everything we can to support them and to ensure a fulfilling future for their daughters

We feel proud to have financially supported the registry and look forward to working together again in the near future.

Christinea Walker

President of the Rett Syndrome Society of BC

MANITOBA RETT SYNDROME SUPPORT GROUP