$250,000 GI problems occur in up to 80% of people with Angelman’s Syndrome (AS). The most commonly reported issues include constipation, gastroesophageal reflux, and abdominal pain. Further, GI problems are associated in neurodevelopmental conditions with both challenges in behavior and […]
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$199,100 Researchers will investigate in more detail the requirements of ASO-mediated rescue of behavioral phenotypes of an AS mouse model. The most important questions they will attempt to address are: How much ASO and how much UBE3A protein is really […]
Read more $198,000 Existing mouse models have a deletion of only UBE3A, which models a UBE3A mutation. This project will develop two new mouse models to determine how the other genes missing in the AS deletion (as opposed to UBE3A mutation) contribute […]
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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 […]
Read more$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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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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$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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