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articles and announcements

Categories: Newborn Screening

June 20, 2023

Development and Implementation of a Novel Comprehensive Panel for the Early Detection of Angelman Syndrome

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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December 13, 2019

Newborn Screening for Angelman syndrome, Prader-Willi, Fragile X and Dup15q Syndromes

    Summary of Dr. Godler Study In a pilot study, Associate Professor David Godler from the Murdoch Children’s Research Institute in Melbourne, Australia, will screen 75,000 newborns, establishing the feasibility of the test for large-scale screening. “Newborn screening means […]

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The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.

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