$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 […]
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Angelman syndrome is caused by deletions or mutations of the maternally‐inherited gene copy of UBE3A. The paternally‐inherited gene copy of UBE3A lies dormant, thus loss of the maternal UBE3A gene copy leads to a near complete loss of UBE3A protein […]
Read more$47,000 This project was continued funding for an important AS investigator to enable his laboratory to work on studies of UBE3A in the mouse model in the hope of developing novel therapeutic initiatives. The experimental approach in this grant was […]
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$62,200 Dr. Weeber has performed crucial genetic and therapeutic studies on the AS mouse model and was instrumental in conducting one of the first experiments that rescued many of the neurophysiological and behavioral problems of the Angelman mouse. To help […]
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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 Based on previous research conducted at Dr. Mark Zylka’s lab and Dr. Ben Philpot’s lab, Dr. Zylka’s team will continue this work with the goal of unsilencing the paternal copy of Ube3a using new methods. Past research has shown […]
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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. 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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