$199,650 The UBE3A protein has two variants called isoforms. This information has been known for some time, but only recently, research discovered that these two isoforms of UBE3A travel to different locations in the brain. The research team is applying this new knowledge to […]
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$200,000 Imagine a traffic light at a busy intersection: when working correctly, the traffic light directs vehicles where they need to go and traffic flows properly. In the brain, the “traffic lights” control the signaling at synapses, which are the […]
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Summary of Dr. Sennott study. Language allows us to share what matters to us with the people we care most about. Individuals with AS face major barriers to access language. Typically developing children learn to use speech to communicate only […]
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Dr. Kiyoshi Egawa from the Hokkaido University Graduate School of Medicine in Japan is conducting further research on Gaboxadol’s potential therapeutic affects in other parts of the AS brain, helping guide current and future clinical trials and move us closer […]
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Summary of Dr. Gray study Dr. Steven Gray is applying his years of experience using gene therapy as a treatment for Giant Axonal Neuropathy (GAN), Rett syndrome, and several other neurological disorders to Angelman syndrome. Dr. Gray has been a […]
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Summary of Dr. Philpot Study Dr. Ben Philpot is examining three new potential drugs for their ability to unsilence the paternal copy of Ube3a. These drugs were identified using the same approach Dr. Philpot previously used to identify topoisomerase inhibitors […]
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Summary of Dr. Carney Study A national figure in cannabidiol (CBD) research, Dr. Paul Carney has been working with the National Academy of Medicine, the National Institute of Drug Abuse and the Florida Department of Health for several years to […]
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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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