World’s Largest Newborn Screening Study for Angelman, Prader-Willi, Fragile X and Dup15q Syndromes Launches Nonprofits co-fund feasibility study to test screening tool for 75,000 newborns for Angelman, Prader-Willi, Fragile X and Dup15q Syndromes AURORA, Ill., and WALNUT, Calif. (November 8, […]
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Additional Data and Analyses from the Phase 2 STARS Clinical Trial with OV101 Ovid Therapeutics Presents Additional Data and Analyses from the Phase 2 STARS Clinical Trial with OV101 for the Treatment of Angelman Syndrome at the 65th AACAP Annual Meeting […]
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Availability of Dedicated Code Will Advance Research and Development of Treatments for this Unique, Well-defined Syndrome and Lead to Improved Clinical Care Nashville, TN, June 19, 2018 — The Angelman Biomarkers and Outcome Measures (A-BOM) Alliance today announced that the […]
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Congratulations to Dr. Arthur Beaudet on being named the 2017 recipient of the Victor A. McKusick Leadership Award from the American Society of Human Genetics. Dr. Beaudet has been a pioneering force in Angelman syndrome research; it’s truly because of […]
Read moreSee the paper by Matthew Judson in The Journal of Neuroscience. Summary Many individuals with Angelman syndrome (AS) have microcephaly—a smaller head and brain size—than typically developing individuals. This microcephaly is not present at birth, but becomes evident sometime during the […]
Read moreASF-funded Research Identifies Biomarker for Clinical Trials ASF-funded research published in the Journal of Neurodevelopmental Disorders has identified that delta—a frequency of brain rhythms identifiable by EEG scans—can serve as a reliable biomarker for pre-clinical and clinical trials in Angelman syndrome. The research team, […]
Read moreStem Cells Help UConn Researchers Identify Defects Causing Angelman syndrome Researchers at UConn Health are using stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause the rare neurogenetic disorder, an important step in […]
Read moreResearch has answered some questions about UBE3A’s role in seizures ASF-funded research conducted at Dr. Ben Philpot’s lab at the University of North Carolina-Chapel Hill has answered some questions about UBE3A’s role in seizures in individuals with Angelman syndrome, and […]
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