January 23, 2020
$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
January 23, 2020
$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 […]
Read more
January 23, 2020
$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 […]
Read more
January 23, 2020
$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 […]
Read more
January 15, 2020
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 […]
Read more
January 15, 2020
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 […]
Read more
December 22, 2019
$3,213 This research project was one of the earliest extensive surveys of behavioral traits in AS and was funded and enabled by the Angelman Syndrome Foundation (ASF) because of ASF’s affiliation with so many families within and outside of the […]
Read more
December 22, 2019
$10,581 Individuals with AS are quite animated in their attempts at communication and can be pro-social even though they have severe speech impairment. Although fluent sign language is beyond the motor and cognitive abilities of those with AS, there is […]
Read more