June 24, 2020
$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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February 18, 2020
Dr. Fitch’s lab has found that the Angelman syndrome mouse model has fewer vocalizations (communication) than typically developing mice. This project proposes to find the brain circuitry responsible for the reduced communication in mice. Preliminary studies suggest it is probably […]
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January 23, 2020
$10,000 This research grant determined if melatonin, a well-known drug that has been used to improve sleep, could be effective in individuals with Angelman syndrome (AS). Children with AS were monitored at night using motion detecting devices and sleep observations. […]
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January 23, 2020
$10,000 The gene that is defective in AS is UBE3A and in 70% of individuals who have AS this gene and genes nearby it are deleted from chromosome 15. This project sought to determine if one of the adjacent genes […]
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January 23, 2020
Approximately 90% of males diagnosed with Christianson syndrome (CS) meet research criteria for a clinical diagnosis of Angelman syndrome (AS). CS is caused by loss-of-function (LoF) mutations in the X-linked, endosomal Na+/H+ exchanger 6 (NHE6) and was originally termed “X-linked […]
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January 23, 2020
The aim of this study is to quantify the effect on communicative abilities of participants* with Angelman syndrome (AS) of high intensity and low intensity training of parents and caretakers in Augmentative and Alternative Communication (AAC). Parents will be taught […]
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January 23, 2020
$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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January 23, 2020
$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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