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2016 Research Grant Awarded

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$50,000 in Research Grants Awarded
London, Ontario – April 29, 2016 – The Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors has unanimously approved the funding of two $25,000 Research Grants from The Hope Fund.
The Hope Fund was established in 2014 and this is the second year that grants have been released from this fund. The funds for these research grants 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.

The first $25,000 grant was awarded to Dr. James Eubanks from Toronto Western Hospital with an application entitled “Testing new read-through drugs for prospective treatment of Rett Syndrome”. This study aims to evaluate the potential for newer drugs to overcome certain genetic mutations found in Rett Syndrome, in turn leading to production of a normal MeCP2 protein. This could potentially lead to further studies geared toward larger therapeutic development. This study has been peer-reviewed by 3 separate and unbiased reviewers and has been unanimously endorsed as highly relevant and very feasible.

 

The second $25,000 grant was awarded to Dr Mojgan Rastegar from the University of Manitoba. Her study is entitled “MeCP2 mutation and Rett Syndrome; Investigating the brain-specific molecular signature of murine and human RTT brain”. These applications were received and evaluated by O.R.S.A.’s Research Advisory Committee that comprised impartial and prominent neurologists, geneticists and scientists from across Canada. This study aims to evaluate the potential differences in male vs female brains (both mouse and human) with Rett Syndrome mutations. The rationale for this is that most people with Rett Syndrome are female, yet many of the studies to date have been conducted on male mouse models. Dr. Rastegar aims to evaluate if there are significant differences here and if this needs to be further evaluated for future planned studies.
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. James Eubanks

 

Eubanks

Dr. Eubanks completed his bachelor’s degree in Arts and Agricultural Sciences at the University of California, Davis in 1985, and received his Doctoral degree in Physiology/Pharmacology from the University of California, San Diego in 1991. He conducted postdoctoral training fellowships at the Salk Institute, at Duke University, and at the University of Toronto before being hired as an independent scientist at the Toronto Western Research Institute in 1994. He has remained at the Toronto Western Hospital since then, although the site itself has had several name changes over the past 20 years (now designated the Krembil Research Institute). The Eubanks lab is interested in determining how epigenetic factors regulate the development, maturation, and the overall function of the central nervous system. The importance of epigenetics to these events has been under-appreciated, but the discovery that the pediatric neurological disorder Rett syndrome is caused by mutations of the epigenetic factor MeCP2 has highlighted the importance of this system in brain development. One key issue relating to pervasive neurodevelopmental disorders is whether they are irremediable or reversible. Data from the Eubanks lab suggests supports the possibility that Rett syndrome may be a reversible condition, as their work shows the reintroduction of normal MeCP2 throughout the brain, or in specific regions of the brain, in MeCP2-deficient mice improved many aspects of their Rett-like condition. These results suggest that Rett syndrome may be amenable to pharmacological or potential genetic modification therapies; possibilities that are currently being explored in the lab using mouse models. As a first step in the translational development process, the Eubanks lab is characterizing fundamental alterations in brain circuitry and neuronal function that arise from the absence of Mecp2. Novel deficits have been identified, which serve as the foundation for rationale-based preclinical drug trials that are in progress.

 

Dr. Mojgan Rastegar

 

Rastegar_ORSA (1)

Dr. Rastegar completed her PhD degree in Biomedical Sciences at the Université Catholique de Louvain (UCL), Brussels, Belgium. Her postdoctoral training in Canada was completed at the McGill University, Montreal, and at the Hospital for Sick Children in Toronto.

Since 2009, the focus of Dr. Rastegar’s laboratory has been on the functional role of MeCP2 in the brain, specifically on the molecular mechanisms by which MECP2 mutations cause Rett Syndrome. Currently, her research program aims to identify the key functional role of MeCP2 protein variants (E1 and E2), their regulation, and the downstream gene regulatory networks during murine and human brain development. Her lab uses a combination of in vivo and in vitro approaches and transgenic mouse models to address how MeCP2-deficiency at the cellular and molecular levels lead to compromised brain function in Rett Syndrome. Dr. Rastegar and her team identified and characterized Mecp2 regulatory elements that mediate the regulation of E1 and E2 isoforms by DNA methylation in brain cells. By developing specific antibodies that recognize individual MeCP2 isoforms, Dr. Rastegar’s lab reported the expression and regulation of MeCP2E1 and E2 isoforms in murine brain cells. Dr. Rastegar’s recent studies on the molecular signature of the Rett Syndrome brain is expected to provide insight towards the development of potential therapeutic strategies for this disease.

 

For more information:
Terry Boyd
President, O.R.S.A.
terry@rett.ca
rett.ca