$200,000 2 years Individuals with a deletion of chromosome 15q11-q13 suffer from Angelman syndrome (AS), a neurogenetic developmental disorder characterized by intellectual disability, motor ataxia, absent speech, and seizures. The specific gene that is responsible for AS encodes the ubiquitin […]
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$99,000 2 years Angelman syndrome (AS) is caused by loss of maternal UBE3A expression. In neurons, paternal UBE3A is silenced by the UBE3A-ATS transcript, resulting in a total loss of UBE3A in AS neurons. Promising preclinical data by the Beaudet […]
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$200,000 2 years Angelman syndrome occurs because of a missing or malfunctioning gene called UBE3A on the maternal chromosome. Normally, UBE3A gene expression occurs only on the maternal chromosome while the paternal chromosome is silenced. The approach in this study […]
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$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 […]
Read more $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 […]
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$150,000 UBE3A is a protein that labels other proteins for disposal. It is thought that accumulation of proteins that would normally be “trashed” causes the deficits in AS. Using stem cells generated from Angelman syndrome patients or stem cells genetically […]
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$138,238 As we move towards promising clinical trials for AS, a major challenge is deciding how to measure improvement after treatment. This study will apply mathematical approaches to data from new and existing behavioral tests using the Angelman syndrome mouse […]
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Angelman syndrome is caused by deletions or mutations of the maternally‐inherited gene copy of UBE3A. The paternally‐inherited gene copy of UBE3A lies dormant, thus loss of the maternal UBE3A gene copy leads to a near complete loss of UBE3A protein […]
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