Kara Gross
October 10, 2022

Angelman and the Gut

$250,000 GI problems occur in up to 80% of people with Angelman’s Syndrome (AS). The most commonly reported issues include constipation, gastroesophageal reflux, and abdominal pain. Further, GI problems are associated in neurodevelopmental conditions with both challenges in behavior and […]

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Dr. Ype Elgersma
February 4, 2021

An AS 15q11-13 deletion mouse model

$198,000 Existing mouse models have a deletion of only UBE3A, which models a UBE3A mutation.  This project will develop two new mouse models to determine how the other genes missing in the AS deletion (as opposed to UBE3A mutation) contribute […]

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January 23, 2020

GABA beta3 Deficient Mice

$10,000 The gene that is defective in AS is UBE3A and in 70% of individuals who have AS this gene and genes nearby it are deleted from chromosome 15. This project sought to determine if one of the adjacent genes […]

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