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.
2012 Research Grant Announcement
The board of O.R.S.A. unanimously approved the funding of up to $25,000.00 to sponsor the second Canadian Rett Syndrome Research Scientific meeting held on Thursday, April 26th, 2012. Over twenty-five researchers from across Canada came together at the Delta Meadowvale Hotel to meet each other, to share their RTT research project and to generate future research collaborations. In 2006 the first Canadian Rett Syndrome Research meeting was held in Vancouver, BC. O.R.S.A. provided funds towards the 2006 meeting. As expected the 2012 scientific meeting was a huge success. The difference from the 2006 meeting is there are over double the amount of researchers attending. Rett syndrome research in Canada is expanding rapidly. Findings from Canadian research projects are providing vital information to the world wide research community. O.R.S.A. is proud to fund and host this event and to support Canadian Rett syndrome research.
2011 Research Grant Announcement
London, Ontario – July 25, 2011 – The Ontario Rett Syndrome Association Board of Directors has unanimously approved the funding of a $25,000 Research Grant to Dr. Yaron Finkelstein, Associate Professor of Pediatrics, Pharmacology and Toxicology at the University of Toronto and staff physician at The Hospital for Sick Children, Toronto.
Dr. Finkelstein’s research grant proposal submission, entitled Dose-Response Efficacy and Safety Analysis of Recombinant Human IGF-1 in Girls with Rett Syndrome, was evaluated by O.R.S.A.’s Research Advisory Committee. This committee is comprised of prominent neurologists, geneticists and scientists from across Canada assisted by members of O.R.S.A.’s Board of Directors. Dr. Finkelstein’s project is a collaborative venture with Boston Children’s Hospital. Additional investigators involved include Matt Gregas, PhD, Ingrid Holm, MD, MPH, Omar Khwaja, MD, PhD, Leonard Rappaport, MD and Mriganka Sur, PhD.
2010 Research Grant Announcement
London, Ontario – September 20, 2010 – The Ontario Rett Syndrome Association Board of Directors has unanimously approved the funding of a $35,000 Research Grant to Dr. John J. Greer, PhD, AHFMR Scientist and Professor, Department of Physiology at the University of Alberta.
Dr. Greer’s research grant proposal submission, entitled Investigation of RespiratoryDysfunction in a Mouse, was evaluated by O.R.S.A.’s Research Advisory Committee. This committee is comprised of prominent neurologists, geneticists and scientists from across Canada assisted by members of O.R.S.A.’s Board of Directors. Dr. Greer’s project collaborators include Jun Ren, Postdoctoral Fellow and Wei Zhang, Research Associate.