December 14, 2019

Validation of biomarkers for Angelman syndrome clinical trials

Ben 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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Christopher Keary, MD
December 14, 2019

Evaluating Anxiety in Individuals with Angelman Syndrome

$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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Dr. Ype Elgersma
December 14, 2019

Understanding Ube3a Isoforms

$199,650 The UBE3A protein has two variants called isoforms. This information has been known for some time, but only recently, research discovered that these two isoforms of UBE3A travel to different locations in the brain. The research team is applying this new knowledge to […]

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