$199,000 Several promising treatments are being developed for Angelman syndrome (AS), with the goal of restoring function of UBE3A. Therapies administered early in life are expected to be most beneficial, but AS is often not diagnosed until 1-4 years of […]
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$200,000 The goal of this study is to establish biomarkers of language function in Angelman syndrome. Language is a likely target for both behavioral and pharmaceutical treatment, as it represents a core deficit in Angelman syndrome and is a major […]
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$50,000 There is a small amount of anecdotal experience and some neuroscience studies suggesting that levodopa might have therapeutic effect on the symptoms of AS. The Angelman mouse model is an ideal way to study this before developing any human […]
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$35,000 We know that individuals with AS have a propensity for a happy demeanor and often have excessive laughter. We also know that they have pro-social behaviors that are distinctive from other types of genetic conditions. This study evaluated older […]
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$58,256 It is known that individuals with AS have an abnormal EEG during periods when seizures do not occur as well as when seizures do occur. Although the patterns of EEG abnormalities have been previously described in AS, there has […]
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$25,000 – RDCRN Training Grant This proposal seeks to compare the yield of routine EEGs obtained as a standard in the Angelman Natural History protocol with two other types of EEG recordings to identify common EEG patterns. These patterns include […]
Read moreBen Philpot, Ph.D. – University of North Carolina-Chapel Hill Heather Hazlett, Ph.D. – Carolina Institute of Developmental Disabilities at University of North Carolina-Chapel Hill Ron Thibert, M.D. – Massachusetts General Hospital $295,970 (2 years) This unique research project is the […]
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