Dr. Mark Zylka
November 22, 2018

Dr. Mark Zylka recognized as a 2017 AAAS Fellow

Congratulations to Dr. Mark Zylka who has been recognized as a 2017 American Association for the Advancement of Science (AAAS) Fellow! The AAAS fellows date back to 1874 and have included such prestigious recipients as Thomas Edison and Margaret Mead. More recently, […]

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November 22, 2018

Newborn Screening Study for Rare Disorders

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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ICD-10
June 19, 2018

Designation of Unique ICD-10 Code for Angelman Syndrome

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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Dr. Arthur Beaudet
October 16, 2017

Dr. Art Beaudet to receive McKusick Leadership Award

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 […]

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August 14, 2017

Published Research: Microcephaly in AS Mice

See 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 […]

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May 11, 2017

Biomarker for Clinical Trials in Angelman Syndrome

ASF-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, […]

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April 24, 2017

Stem Cell Research at UConn Health

Stem 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 […]

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