AS Research at Baylor University Makes Significant Progress
AS research at Baylor University Seeking Viable Treatment Makes Significant Progress
The Angelman Syndrome Foundation and the lab of Arthur Beaudet, M.D., at Baylor University are inspired and excited to announce that progress is being made in analyzing a possible avenue of treatment for Angelman syndrome.
The research, funded by the Angelman Syndrome Foundation in the organization’s 2011 and 2013 research grant cycles, seeks to find a possible treatment for Angelman syndrome by activating the paternal copy of Ube3a in a mouse model.
Ongoing research and this latest discovery, published in December in PLOS Genetics, have demonstrated the feasibility of activating paternal Ube3a in mice by terminating the transcription of its antisense RNA Ube3a-ATS genetically. In doing this in the AS mouse model, the research team observed restoration of Ube3a expression, improvement of behavioral defects, and reversal of the impaired long-term potentiation. The research team further studied the imprinting mechanisms of Ube3a and proposed a novel transcriptional collision model. These results provide evidence for a key regulatory role of Ube3a-ATS in Angelman syndrome, opening up an exciting possibility of a gene-specific treatment for Angelman syndrome.
“We at Angelman Syndrome Foundation are optimistic about the future of this research, as our ultimate goal is finding viable treatments and a cure for our loved ones with Angelman syndrome,” said Eileen Braun, executive director of the Angelman Syndrome Foundation. “Our Scientific Advisory Committee goes through a rigorous process in evaluating research projects for potential grants, and we are all thrilled with the results coming from the Beaudet lab. We are incredibly appreciative of the Baylor team’s dedication to creating a better future for individuals with Angelman syndrome.”