$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 […]
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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 […]
Read moreBen Philpot, Ph.D. – University of North Carolina-Chapel Hill Heather Hazlett, Ph.D. – Carolina Institute of Developmental Disabilities at University of North Carolina-Chapel Hill Ron Thibert, M.D. – Massachusetts General Hospital $295,970 (2 years) This unique research project is the […]
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$199,705 (2 years) This research project aims to identify and characterize proteins in the brain that are affected by the absence of UBE3A. These proteins serve an unknown purpose in brain development. This research will help provide insight into how […]
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$200,000 (2 years) At approximately two weeks of age in a proven AS mouse model, there is an increase in the expression and subsequent activity of a specific molecule prior to other molecules in the AS brain, which results in […]
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$198,948 (2 years) The overarching goal of this research is to generate evidence to guide families on the appropriate selection and use of speech generating devices (SGDs) that may help individuals with AS better communicate. The researchers will conduct a […]
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$200,000 (2 years) This research study builds upon previous ASF-funded research conducted by Dr. Art Beaudet at Baylor College of Medicine and will determine whether a drug that increases UBE3A expression can restore normal function to human AS brain cells. […]
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$181,800 Many families of individuals with Angelman syndrome express concern to their doctors about anxiety in their loved one. However, very little is understood about anxiety in individuals with AS at the clinical level. Many clinicians feel that once physical […]
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