$25,000 – RDCRN Training Grant This proposal seeks to compare the yield of routine EEGs obtained as a standard in the Angelman Natural History protocol with two other types of EEG recordings to identify common EEG patterns. These patterns include […]
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$92,144 – 1-year With previous support from the ASF, Dr. Elgersma engineered a UBE3A- inducible mouse in which the UBE3A gene (responsible for causing AS) is non-functional when the mouse is born. However, by a medication injection at any desired […]
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$170,202 (2 years) Previous research discoveries have indicated that one of the UBE3A target proteins, Arc (activity-regulated cytoskeleton-associated protein) plays a critical role in regulating synaptic plasticity and long-term information storage in the brain. By understanding how Arc is involved […]
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$200,000 (2 years) Previous work on a major synaptic protein, Calcium/calmodulin-dependent protein Kinase II (CaMKII), suggests that it has a central role in producing the developmental deficits in Angelman syndrome (AS). This research seeks to better understand how CaMKII activity […]
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$25,000 – RDCRN Training Grant This proposal seeks to compare the yield of routine EEGs obtained as a standard in the Angelman Natural History protocol with two other types of EEG recordings to identify common EEG patterns. These patterns include […]
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$84,011 In this study, Dr. Dindot plans to investigate whether gene therapy in the AS mouse (using lentiviruses as the vector) is a viable therapeutic option, and thus a future possibility for individuals with AS. He will also examine the […]
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$200,000 – 2-years Dr. Zylka’s lab will expand on the work previously funded by ASF that led to the identification of a family of topoisomerase inhibitors that can unsilence the paternal UBE3A gene. In order to learn more about this […]
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$120,000 – 2-years The discovery of genomic reprogramming of human skin cells into induced pluripotent stem cells (iPSCs) provides a novel way to model human diseases with complex genetics. By reprogramming skin cells obtained from patient samples, cell lines can […]
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