$200,000 2 years Angelman syndrome occurs because of a missing or malfunctioning gene called UBE3A on the maternal chromosome. Normally, UBE3A gene expression occurs only on the maternal chromosome while the paternal chromosome is silenced. The approach in this study […]
Read more
$195,400 Most caregivers of an individual with Angelman syndrome spend a lot of time and money getting a diagnosis of AS once symptoms begin. As more is known about AS and new therapies offer potential help for those symptoms, there […]
Read more
$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
$199,000 Several promising treatments are being developed for Angelman syndrome (AS), with the goal of restoring function of UBE3A. Therapies administered early in life are expected to be most beneficial, but AS is often not diagnosed until 1-4 years of […]
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
$100,000 Gastrointestinal or stomach issues are common in Angelman syndrome. They may lessen the quality of life. However, the reasons for these issues are not known. For example, we do not know if the syndrome leads to these issues. They […]
Read more
$103,000 As individuals with Angelman syndrome get older, there is often an increase in the frequency of abnormal movements, including nonepileptic myoclonus. The goal of this study is to better characterize these abnormal movements to help us identify new ways […]
Read more