$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 […]
Read more
$200,000 Motor deficits are common and debilitating, but not well-understood, symptoms of Angelman syndrome. AS results from the loss of the UBE3A gene. The development and study of animal models of AS that lack the same gene has advanced our […]
Read more
$199,100 Researchers will investigate in more detail the requirements of ASO-mediated rescue of behavioral phenotypes of an AS mouse model. The most important questions they will attempt to address are: How much ASO and how much UBE3A protein is really […]
Read more $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 […]
Read more
$138,238 As we move towards promising clinical trials for AS, a major challenge is deciding how to measure improvement after treatment. This study will apply mathematical approaches to data from new and existing behavioral tests using the Angelman syndrome mouse […]
Read more
Dr. Fitch’s lab has found that the Angelman syndrome mouse model has fewer vocalizations (communication) than typically developing mice. This project proposes to find the brain circuitry responsible for the reduced communication in mice. Preliminary studies suggest it is probably […]
Read more$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 […]
Read more
Approximately 90% of males diagnosed with Christianson syndrome (CS) meet research criteria for a clinical diagnosis of Angelman syndrome (AS). CS is caused by loss-of-function (LoF) mutations in the X-linked, endosomal Na+/H+ exchanger 6 (NHE6) and was originally termed “X-linked […]
Read more