$80,000 The mouse model provides an ideal way to evaluate therapeutic attempts to increase UBE3A function on the otherwise silenced paternally-derived mouse chromosome. Using novel genetic engineering methods, Dr. Beaudet and his lab were able to develop a engineered mouse […]
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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 […]
Read more$110,000 The ASF Joseph Wagstaff Postdoctoral Research Fellowship was granted to its first recipient. Dr. King will do his postdoctoral research on a new drug UNCilencer1, which turns on the silenced paternal UBE3A gene in mouse neurons. UNCilencer1 is a […]
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$28,850 ASF has supported varied initiatives to improve treatment of seizures in AS and this grant aimed at exploring alternatives to the use of the very restrictive ketogenic diet. In the low glycemic diet, the extremely high lipid content of […]
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$10,000 Funding for this grant enabled the largest survey ever to be conducted on AS regarding anticonvulsant drug use. This was an extensive questionnaire survey of families within and outside the United States and the results provided important information to […]
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A potentially valuable approach to understand UBE3A function is the characterization of non-truncating missense variants that change one or a few amino acids in the protein. There are hundreds of UBE3A variants, and their functional significance is virtually unknown. The […]
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It remains unclear which brain areas (and hence which cellular changes) directly contribute to phenotypes of AS. Knowledge of the critically affected brain areas is important for two reasons: 1) it will help us to identify the most relevant mechanisms […]
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