December 22, 2019
$62,903 One of the unique aspects of the brain problem in AS is that only the UBE3A on the maternally inherited number 15 chromosome is disrupted. The other UBE3A, located on the paternally derived chromosome, is silenced by a control […]
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December 22, 2019
$25,000 UBE3A, the gene when disrupted causes AS, is present in all animal and insect species, thus indicating how important it is for normal neuronal function. These investigators were able to identify the equivalent of the UBE3A gene in Drosophila, […]
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December 22, 2019
$3,600 ASF maintains contact with hundreds of families throughout the United States and in other parts of the world and this contact serves as a valuable resource for investigators wishing to learn more about certain behavioral or medical problems of […]
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December 22, 2019
$29,700 Visual media plays a powerful role in helping families and others understand the natural history and many of the day-to-day concerns that parents have for their children and adults with AS. This work combines the skills of individuals experienced […]
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December 22, 2019
$14,145 ASF has been aggressive in funding a number of investigators, as well as multiple centers, involved in providing dietary supplements aimed at augmenting the biological availability of methyl groups (see Beaudet study, in 2000). This project helped facilitate clinical […]
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December 22, 2019
$11,541 Funds for this project built on earlier work by Dr. Calculator (above) and provided additional behavioral treatment strategies to improve communication through nonverbal methodologies.
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December 22, 2019
$45,547 Dr. Wagstaff was one of the crucial investigators who discovered that UBE3A disruption was the cause of AS. With funds from this and other projects he was able to develop a mouse model for AS and this important development […]
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December 22, 2019
$25,000 About 90% of individuals believed to have AS will have abnormal genetic tests that identify one of four mechanisms that can disrupt UBE3A function. There are however about 10% of individuals with apparent AS who have negative genetic testing […]
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