The Ontario Rett Syndrome Association (O.R.S.A.) is closely monitoring the development of COVID-19 (Coronavirus), that has spread quickly to other countries and into our communities, which is associated with respiratory illness.  The World Health Organization has now declared this a Pandemic. 

Ontario’s chief medical officer now recommends the immediate suspension of all gatherings over 250 people because of the risks of COVID-19. Thus, O.R.S.A. has decided to postpone the conference planned for May 2020. Individuals with Rett syndrome are often susceptible to complications from respiratory illness and many of the speakers work at hospitals and other health care organizations that have travel restrictions in place or are considering them. 

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 community. During this extraordinary time, we will continue our mission in ways that do not add unnecessary risk. 

• The conference planned for May 22 – 24 in London, Ontario has been postponed. 
• An announcement will be sent by email and posted on our website and social media if/when a new date has been confirmed. 
• Refunds will be issued for all conference passes. 
• O.R.S.A. will explore alternative means of providing information especially as related to the impact of COVID-19 on the Rett syndrome population.

 We are available to answer any questions or concerns and will be sending you further updates as they become available. 

The Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors has unanimously approved the funding of two research grants totaling $150,000 from the Hope Fund for 2019. This is the largest amount approved in a single year. With this release, the Hope Fund has funded over $500,000 in Canadian research to date.

$100,000 is awarded to Dr. John Vincent and Dr. Juan Ausio. Their project, entitled Therapeutic small molecules and peptides targeting missense mutations in Rett Syndrome, hopes to find molecules that interact with mutant MECP2 proteins in such a way as to make good candidates for drug therapy. They have already received an award for free molecular design, which will be able to screen ~10 million molecules to find ones that will target specific residues within the MECP2 binding domain. They will then be able to test the successful candidate molecules to see which will reverse the molecular deficits in MECP2, paving the way for preclinical studies. Reviewers have stated that these “precision medicine approaches are at the forefront of neuroscience”.

$50,000 is awarded to Dr. James Eubanks for his project entitled A Preclinical Trial In MeCP2-Deficient Mice To Test The Repurposing Potential Of An FDA-Approved Drug For Use In Rett Syndrome. This proposal is aimed at providing symptomatic treatment to reduce the burden of mitochondrial dysfunction in Rett Syndrome, using an already-FDA-approved drug. This study is based on promising preliminary mouse data and is simple in concept and scope. It has the most immediate relevance to individuals with Rett syndrome as it is investigating the potential for a drug already in circulation to be used to ameliorate symptoms.

Grant applications were received and evaluated by O.R.S.A.’s Research Advisory Committee which is comprised of impartial and prominent neurologists, geneticists and scientists from across Canada. O.R.S.A. would like to thank all those individuals that applied for this grant.

The Hope Fund was established in 2014.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.

Dr John B. Vincent completed his Ph.D. at University College London, UK, in 1994. His work included early genetic studies of autism spectrum disorders (ASD), with Profs. Hugh Gurling, Patrick Bolton and Sir Michael Rutter. After moving to Canada in 1995, he worked with Dr Jim Kennedy at the Clarke Institute of Psychiatry, then with Dr Steve Scherer at The Hospital for Sick Children, Toronto. Since 2002, he has worked as a Senior Scientist at CAMH, and Professor, Dept. of Psychiatry, University of Toronto, and cross-appointed as a full member in the Institute of Medical Science at the University of Toronto. His work is mainly on the genetics of neurodevelopmental disorders, including Rett syndrome, focussing on X-linked genes such as MECP2 and PTCHD1, as well as identifying many new autosomal recessive genes through studying consanguineous families. Many of the genes discovered have since become integrated in standard genetic diagnostic testing gene panels. In 2004, he co-authored a seminal paper on the identification of an alternative version (isoform) of the Rett syndrome protein, MeCP2, and identifying the first Rett mutation in MECP2 exon 1, with the implication that this new version is the relevant isoform for Rett syndrome (Mnatzakanian et al, 2004). This has since been shown by numerous studies to be correct (e.g. Yasui et al, 2014). Dr Vincent’s group also identified the gene PTCHD1 as a new X-linked gene for ASD (Marshall et al, 2008; Noor et al, 2010; Chaudhry et al, 2015; Ung et al, 2018). Dr Vincent has published over 150 peer-reviewed research papers, including 11 on Rett syndrome and MECP2.

Dr. Juan Ausió, Ph.D., is a Professor in the Department of Biochemistry and Microbiology at the University of Victoria, BC, Canada. He received his B. Sc. from the University of Barcelona, Catalonia, (Spain). He received a M.Sc. and a Ph. D. from the University of Barcelona, Catalonia, (Spain) in 1976 and 1980, respectively. He was a postdoctoral fellow at the Polymer Department at the Weizmann Institute of Science, Israel, from 1981-1984 and at the Department. of Biochemistry and Biophysics, Oregon State University, Corvallis, OR, USA from 1984-1986. From 1986-1988 he became a Senior Research Associate at Dept. of Biochemistry and Biophysics, Oregon State University, Corvallis, OR, USA. In 1988-1989 he was appointed Colaborador Cientifico at the Spanish Research Council at the Centro de Investigación y Desarrollo Consejo Superior de Investigaciones Cientificas, Barcelona, Catalonia, Spain. He has been a Faculty member of the Department of Biochemistry and Microbiology at the University of Victoria since January 1990, where he is currently a full Professor. Dr. Juan Ausió’s research interests focus on structural characterization of biological macromolecular assemblies, and nuclear proteins with special emphasis on chromosomal protein-DNA interactions. Current research includes studies on methyl CpG binding protein 2 (MeCP2) and its role in the modulation of neural cell chromatin organization and function with special emphasis on the alterations arising from Rett-syndrome-related MeCP2 mutations. Dr. Ausió has been the co-organizer of several European Rett syndrome meetings: The First International meeting of the Spanish Association of Rett Syndrome (AESR) in Spain (July 2017) and “Rett syndrome research, towards the future” in Italy (September 2018).

Dr. Eubanks is a neurobiologist at the Krembil Research Institute in Toronto, Canada – the home of the world champion Toronto Raptors. Dr. Eubanks came to Toronto in 1992, and started his own independent laboratory in 1994. The focus of his work at that time focused on defining how epigenetic factors influence the sensitivity of the brain to epilepsy and stroke. In the early 90’s, MeCP2 was one of a relatively small number of epigenetic factors that had been identified, which is why his group was examining MeCP2 before its role in Rett syndrome was revealed. With the identification in 1999 that MECP2 mutations cause Rett syndrome, his interests shifted towards delineating how MeCP2 normally regulates brain development and function, and to identifying how the absence of MeCP2 affects brain activity. By identifying deficits caused by MeCP2 dysfunction, his work has identified targets for rationale drug development programs working to develop Rett syndrome treatments. The first clinical trial based on his research has now received approval from Health Canada and will soon begin. Dr. Eubanks conducted his training in the United States, where he received a bachelor’s degree from the University of California, Davis, and a PhD degree from the University of California, San Diego. Upon completion of his Doctoral degree, he then conducted postdoctoral training at the Salk Institute and at Duke University before coming to Toronto. He is currently a Senior Scientist and Division Head at the Krembil Research Institute in Toronto, and a Professor at the University of Toronto. He is member of the Scientific Advisory Board for the Ontario Rett Syndrome Association, the International Rett Syndrome Foundation, and the University of Toronto Epilepsy Research Program. His lab is currently funded by the Canadian Institutes of Health Research, the Ontario Brain Institute, the LouLou Foundation, and the National Institutes of Health.

The Ontario Rett Syndrome Association (O.R.S.A.) is a volunteer, not-for-profit charity for parents, caregivers, researchers, medical professionals and other interested support agencies and individuals. O.R.S.A. became incorporated in 1991. Its Board of Directors is comprised of parents and caring citizens. Support is provided to families regionally. The association funds Canadian research projects, three Rett Syndrome Clinics, bi-annual conferences and developed the Canadian Rett Syndrome Registry. O.R.S.A. advocates to the needs of individuals with Rett syndrome and their families provincially and nationally.

The 2019 Run4Rett will be held Sunday September 15, 11:00 a.m. at Richmond Green Park, 1300 Elgin Mills Rd. E., Richmond Hill, ON, L4S 1M5.

The 15th annual 1k and 5k run / walk is a signature fundraiser for the Ontario Rett Syndrome Associated (O.R.S.A.). It is an opportunity to bring us together to raise awareness and to show a united and strong voice for Rett syndrome to hundreds of participants and supporters. Our goal is to raise $60,000.

All proceeds fund crucial activities organized by O.R.S.A.’s volunteer board of directors. These include:

• Funding of 3 Rett syndrome clinics in Ontario
• The Hope Fund which provides grants to Canadian researchers
• Bi-annual family conference and medical symposium
• The Canadian Rett Syndrome Registry

Please JOIN US! Walk, run or volunteer for the 1K or 5K with family and friends! Families are welcome!

Register Online – Closes September 12th

Download printable pledge and registration form

Sunday June 9th, 2019 – 1:00 PM

Registration:  Beginning at 11:00 a.m. Sunday
Tee-Off:  1:00 p.m. Sunday
Dinner:  Buffet Following Golf
Format:  4 Player Scramble
Location:
The Greens at Renton
969 Concession 14
Simcoe, ON  N3Y 4K3
www.greensatrenton.com

Online Registration

Online Dinner Only Registration

Registration Form

Sponsorship Information

Sponsorship Online Registration

Deadline for registration is June 1st.

Cash donations and prizes/silent auctions items are greatly appreciated!

Thank you for your support!

October is Rett Syndrome Awareness Month internationally. This year the month has also been recognized by the Government of Canada and listed on their calendar of health promotion.

https://www.canada.ca/en/health-canada/services/calendar-health-promotion-days.html

The month gives us a chance to educate people in our communities about Rett Syndrome and how it impacts those affected and their caregivers. O.R.S.A. will be focusing on a different topic each week during the month:

• Week 1: General Rett Syndrome Awareness
• Week 2: Caring for Individuals With Rett Syndrome
• Week 3: Communication and AAC
• Week 4: Basic Science and Clinical Research

As part of this, O.R.S.A. will officially launch a YouTube channel with interviews from speakers and participants at our 2018 conference. The videos will be rolled out throughout the month and we encourage everyone to share them with their family and friends.

Once again, major attractions in Ontario will be lit purple on October 29th.

• CN Tower: beginning at sunset, except for a standard 8 minute light show at the top of each hour
• Niagra Falls: 10pm – 10:15pm
• Peace Bridge: Dusk – 1am – Moved to October 28th due to unforeseen circumstances
• 3D Toronto Sign: 9am until 9am next morning (in rotation with standard lighting) – Moved to October 30th due to vigil for Pittsburgh tragedy

We encourage everyone to light up their homes or business place purple as well! We have a flyer with basic information about Rett syndrome available to download and print for sharing with your neighbours.

Please send any photos to us on Facebook, Twitter or email bhiggins@rett.ca. Watch our social media accounts for lots of updates throughout the month.

A father’s dream; a daughter’s destiny. Follow your dreams and overcome the challenges in your life.

Jason Dekorte, O.R.S.A. member and father of Scarlett recently travelled to Peru to fulfill a lifelong dream of visiting the Inca ruins while raising awareness for Rett Syndrome. He plans to produce a documentary about the trip.

Please check out the indiegogo page and watch the trailer!

https://www.indiegogo.com/projects/carrying-a-dream#/

The 2018 Run4Rett will be held Sunday September 16, 11:00 a.m. at Richmond Green Park, 1300 Elgin Mills Rd. E., Richmond Hill, ON, L4S 1M5.

The 14th annual 1k and 5k run / walk is a signature fundraiser for the Ontario Rett Syndrome Associated (O.R.S.A.). It is an opportunity to bring us together to raise awareness and to show a united and strong voice for Rett syndrome to hundreds of participants and supporters. Our goal is to raise $60,000.

All proceeds fund crucial activities organized by O.R.S.A.’s volunteer board of directors. These include:

• Funding of 3 Rett syndrome clinics in Ontario
• The Hope Fund which provides grants to Canadian researchers
• Bi-annual family conference and medical symposium
• The Canadian Rett Syndrome Registry

Please JOIN US! Walk, run or volunteer for the 1K or 5K with family and friends! Families are welcome!

Register online now (closes September 13)

Download printable pledge and registration form

DONATE NOW