A classic phenotype of AS has been described which includes developmental delay, intellectual disability, speech impairment, gait ataxia and a happy demeanor. However, these features are not apparent in infancy. Further, initial symptoms of developmental delay are non-specific, which often complicate a […]
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Individuals with Angelman syndrome (AS) are known to have an increased likelihood of exhibiting challenging behavior, especially in situations that are anxiety provoking. These behaviors substantially affect family functioning and caregiver mental health. However, there is not a well-established and validated measurement […]
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$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 […]
Read more $195,400 Most caregivers of an individual with Angelman syndrome spend a lot of time and money getting a diagnosis of AS once symptoms begin. As more is known about AS and new therapies offer potential help for those symptoms, there […]
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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 […]
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$199,000 Several promising treatments are being developed for Angelman syndrome (AS), with the goal of restoring function of UBE3A. Therapies administered early in life are expected to be most beneficial, but AS is often not diagnosed until 1-4 years of […]
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