$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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$200,000 – 2-years While it has been appreciated for some time that loss-of-function mutations in the UBE3A gene are the primary causative factor for Angelman syndrome (AS), the precise mechanisms by which the loss of Ube3A in the nervous system […]
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$100,000 Angelman syndrome is caused by deficiency of UBE3A. Unlike ordinary autosomal genes, it is subject to genomic imprinting with expression only from maternal chromosome. It is unknown how such imprinted status is established, since no differential DNA methylation was […]
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$200,000 – 2-years This grant represents a continuation of funding for this investigator’s laboratory which was instrumental in identifying that a class of topoisomerase inhibitors can unsilence the paternal UBE3A gene. The investigator now plans to extend this work by […]
Read more $200,000 (2 years) Angelman syndrome (AS) is typically caused by genomic deletions that encompass the maternal copy of UBE3A. In some patients with AS, the UBE3A protein is present but with a single amino acid change known as a missense […]
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$81,631 The principal objective of these studies is to determine if acamprosate, a drug that is approved by the Food and Drug Administration for the treatment of alcoholism in adults and works to correct imbalances in excitatory and inhibitory signaling […]
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