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Follow on Google News | ASF Funds Over $1 Million in Research Grants in 2011The Angelman Syndrome Foundation further solidified its dedication to research by increasing its grant award total to more than $1 million for 2011.
Dr. Benjamin Philpot of the University of North Carolina in Chapel Hill, N.C.; Dr. Mark Zylka of the University of North Carolina in Chapel Hill, N.C.; Dr. Aurthur Beaudet of Baylor College of Medicine in Houston, Texas; Dr. Michael Greenberg of Harvard Medical School in Boston, Mass.; Dr. Eric Levine of University of Connecticut Health Center in Farmington, Conn.; Dr. Ype Elgersma of Erasmus University Medical Center/ ENCORE expertise center for neurodevelopmental disorders in Rotterdam, Netherlands; The approved proposals aim to target a variety of research approaches including: • Performing preclinical studies of a lead compound designed to "awaken" the intact paternal UBE3A allele in a mouse model of Angelman syndrome (Philpot) • Determining how particular drugs mechanistically regulate Ube3a expression and identify biomarkers that could be used as clinical indicators of drug efficacy (Zylka) • Studying the role of antisense RNA Ube3a-ATS in Ube3a imprinting and their interaction using mouse models (Beaudet) • Determining the extent to which elevated Arc or Ephexin5 expression contributes to the neurophysiological and cognitive dysfunction associated with AS in the context of a well-characterized mouse model of the disorder (Greenberg) • Utilizing patient-specific cell lines to explore the underlying physiological and morphological defects in the brain cells of AS patients (Levine) • Addressing to what extent the UBE3A gene is involved in brain development, and to what extent we can reverse the symptoms once brain development has taken place (Elgersma) • Examining whether re-introduction of UBE3A expression into the brain of post-adolescent and adult mice rescues abnormal neuronal morphology, reduces seizures, enhances learning and memory, and improves motor-coordination. Additionally, examining the efficacy of the 3 E6-AP isoforms to improve brain function in AS mice with the intent of identifying a particular isoform that can be used in gene therapy studies (Dindot) To view the full summaries with amounts funded, visit: http://www.angelman.org/ "These awards represent the boldest effort thus far by ASF to promote and support the highest caliber of research on Angelman syndrome. It is our hope that these funded researchers, and their collaborators and peers, will bring forth new discoveries that ultimately lead to safe and effective therapies that improve the quality of life for all with Angelman syndrome," said Charles A. Williams, M.D., Scientific Advisory Committee Chair. “The Angelman Syndrome Foundation is once again privileged to fund such substantial and vital research. This critical moment in ASF’s history is a testament to our loyal community of parents, families, caregivers, and friends, whose dedication will soon make the dream of treatment and a cure for Angelman syndrome a reality,” said Eileen Braun, Executive Director of the Angelman Syndrome Foundation. About Angelman Syndrome Foundation Since 1996, the Angelman Syndrome Foundation has funded 66 research grants totaling more than $4.5 million. The Angelman Syndrome Foundation has awarded a majority of these funds ($4.3 million) beginning in 2005. For more information on the Foundation, please visit www.angelman.org. End
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