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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$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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$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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$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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$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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$200,000 – 2-years This grant represents a continuation of funding for this investigator’s laboratory which was instrumental in identifying that a class of topoisomerase inhibitors can unsilence the paternal UBE3A gene. The investigator now plans to extend this work by […]
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$200,000 (2 years) Oligonucleotides are short, single-stranded DNA or RNA molecules. Previous studies have demonstrated that the antisense RNA of Ube3a (Ube3a-ATS) silences the paternal Ube3a gene. The investigators propose using antisense oligonucleotides (ASOs) to specifically target Ube3a-ATS, which is […]
Read more Ben Philpot, Ph.D. – University of North Carolina, Chapel Hill Ype Elgersma, Ph.D. – Erasmus Medical Center, Rotterdam, Netherlands $400,000 (2 years – $200,000 per institute) A previously developed mouse model for Angelman syndrome (AS) enables the maternal copy of […]
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