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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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#WWYG
Last Updated: 06/09/2016 by Sherry Lawrence
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It’s the 1st of October and Rett syndrome awareness month is officially underway. Annually, October is the month we give a big push to educate the public about Rett syndrome, to raise awareness and to share stories. This year our focus is WHY. Why would you give? We’ll be sharing stories throughout the month, stories from people like you telling us why they give.
The Ontario Rett Syndrome Association is joining forces with others around the world to tell the world about why we are all giving to find a cure and change the world for girls and women who live with Rett syndrome.
We share a common goal: finding treatments – and ultimately a cure – as soon as humanly possible, by speeding up the research that will unlock the girls. We’re asking everyone who gives to this life-changing cause – every family member, friend, sponsor, donor – to tell us what motivates you to give, whether it’s running a marathon, writing a cheque, organizing an event or taking part in a clinical trial.
This is what we’re asking YOU to do – post on social media using the hashtag #WWYG, tell the world WHY you give. Let’s make this October one where people are inspired to learn more, give more and develop a lasting connection to our important cause.
You can freely share any of the images or links you see us using through the month. Want the cover photo or shareable graphic? Use them with our gratitude!! Please visit the website www.wwyg.org to see stories from dozens of people around the world. Want to see your story on the website? Send it to us along with a picture and we’ll add it for you.
When people work together the burden is shared and amazing things can happen. Here’s to a month full of awesome unity!
Please take the time to read the following two stories, thank you:
Terry- http://www.wwyg.org/portfolio/terry/
Darcy-http://www.wwyg.org/portfolio/darcy/
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Thank You for Supporting the 2015 RUN4RETT ~
Last Updated: 06/09/2016 by Sherry Lawrence
Together We Are “Building Healthy Tomorrows”!
Last Updated: 06/09/2016 by Sherry Lawrence
DONATE to RUN4RETT 2015
Please click here to donate to the RUN4RETT 2015.
If you weren’t able to attend this years RUN4RETT you can still make a donation to support the Ontario Rett Syndrome Association.
Thank you for your support.
Together we can build healthy tomorrows!
Madi’s Yard Sale 2015 Success!
Last Updated: 06/09/2016 by Sherry Lawrence
Another year, and another success! This year Madi’s Yard Sale raised a grand total of $11,239.35!!!
Like last year we held the yard sale over 2 days, July 17th and 18th. The weather wasn’t quite as cooperative as previous, as we spent much of the day on Friday trying to ward off the impending storm. It was cold and wet, and we were limited to indoor space – the garage, the neighbors garage, the trailers, and one little tent. Yet to our absolute amazement, we still couldn’t keep people away! Between the regular Friday yard sale shoppers and folks just wanting to support our cause, we were still crazy busy! The storm did eventually close us down early, but thankfully Saturday was a sunnier day and we made up for lost time.
We knew that not every person could find that “must-have second hand” item, so we decided to have a few raffle items this year, which was a success. We had Grama Anne – a local grandmother – helping us out, selling her one-of-a-kind sock puppets. She donated a portion of each sock puppet sold to the yard sale. Not to mention we had Madi’s paintings, which sold out in no time flat!
A lot of people approached us this year about helping Madi directly, and I was hesitant at first. I’m slowly learning the act of putting aside my pride and accepting help from people, but it’s not always easy. In the end we graciously accepted donations in the amount of $3,285.47 for Madi, which will go towards some of her new equipment costs. On top of that, $7,953.88, being all proceeds from the yard sale, and a good percentage of the donations, have been donated to O.R.S.A to fund further research for a cure.
Now, what’s in my mind as I write this is, could I have imagined a few years ago that in between working full-time, raising 2 children, doctors appointments, everyday life, etc, that we’d be spending half of every summer planning a yard sale? Nope. It was my husband’s idea, “just a small yard sale” he said. Hah! None of us could’ve imagined it would turn into 6 weeks of major planning, organizing, managing pick-ups and drop-offs from strangers, 3 storage units, 2 trailers, and 9 (now tired) people to pull it off. But it is completely worth it! It’s a time when our family comes together, some from out-of-province, and we spend 2 days in this whirlwind of physical exhaustion, laughter, and witnessing first hand the kindness and generosity of complete strangers. In the grand scheme of fundraising events this may be small-beans, but it’s more than the money raised – it’s the people we meet. It’s knowing that there are a few hundred more people walking around that know the definition of Rett Syndrome. And let’s be honest – raising $11,239.35 feels pretty darn good too!!
See you in 2016!
The Great Ice Cream Eating Challenge
Last Updated: 06/09/2016 by Sherry Lawrence
Sunday, August 9th, join The Great Ice Cream Eating Challenge at the Famous Enniskillen General Store serving the best of Kawartha Icecream in 44 delicious flavours. Located at 7851 Old Scugog Road, Enniskillen, Ontario L0B 1J0.
Pre-Register in store or www.howtooranizethat.com
Ticket profits will be donated to the Ontario Rett Syndrome Association.
Thank you Ella of “How To Organize That”
Posted: 07/08/2015 by Sherry Lawrence
Membership Matters
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:
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
Posted: 06/22/2015 by Sherry Lawrence
Lendrum Garage Sale
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.
Last Updated: 06/01/2016 by Sherry Lawrence
OBI Research Partnership
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
LCBO Change Boxes
Posted: 06/17/2015 by Sherry Lawrence
The Ontario Rett Syndrome Association (O.R.S.A.) is kicking off Summer in the best possible way, a fundraising campaign in conjunction with the LCBO in the Kitchener, Waterloo, Cambridge, New Hamburg, Elmira and Guelph areas. From June 21st to July 28th, the LCBO has designated 21 locations that will be donating all proceeds from their Change Boxes to O.R.S.A. Please share this information with friends and family to help us raise both awareness and funds.
If you are interested in setting up this program in your local area, please contact fundraising@rett.ca for details or if you have some other great fundraising ideas or opportunities, please contact us. The LCBO has their traditional charities that they raise money for during the year but designate January and July to support other charities, like O.R.S.A.
Posted: 03/27/2015 by Sherry Lawrence
2015 Research Grant Awarded
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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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