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Angelman Syndrome Foundation Announces Research Fellowship Recipient

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Angelman Syndrome Foundation Announces Research Fellowship Recipient

-- ASF grants more than $100,000 to further Angelman syndrome research --

CHICAGO, February 4, 2013 – The Angelman Syndrome Foundation (ASF) announced today that it will award Dr. Angela Mabb, University of North Carolina-Chapel Hill, the Joseph E. Wagstaff Postdoctoral Fellowship.  This prestigious two-year award will fund promising Angelman syndrome research and will allow continued investigation into a potential treatment for this neurogenetic disorder that is similar to autism. The research Dr. Mabb will conduct builds upon previous ASF-funded research and further evaluates a specific drug for its therapeutic effectiveness for individuals with Angelman syndrome.

“Dr. Mabb’s research will continue to investigate how an FDA-approved drug, which is currently used to treat cancer, can provide a potential treatment for Angelman syndrome,” said ASF Scientific Advisory Committee Chair Dan Harvey, Ph.D. “This work will bring us closer to conducting pre-clinical trials and evaluating how to make these treatments available to individuals with this disorder. This promising path of research inspires hope for individuals with Angelman syndrome and their families.”

As the largest non-governmental funder of Angelman syndrome-specific research, ASF created the Joseph E. Wagstaff Postdoctoral Fellowship to encourage young researchers to pursue a career in Angelman syndrome research and help further the understanding of the genetic complexities of Angelman syndrome. Dr. Mabb was selected to receive this two-year grant that awards $55,000 per year because of her current and past research on Angelman syndrome. She will continue to examine potential therapeutics with her mentor Dr. Benjamin D. Philpot, Ph.D., the UNC-Chapel Hill researcher who discovered that this cancer-fighting drug could restore proper function of the gene that causes Angelman syndrome.

“I look forward to building on Dr. Philpot’s research by further examining how we can restore proper function to the UBE3A gene,” said Dr. Mabb. “Over the next two years, this research aims to help us understand the role topoisomerase inhibitors play in genetics, how improper functioning occurs in the UBE3A gene and create treatments that awaken the Ube3a gene in mouse models. This research will help determine if targeting topoisomerase is a viable therapy for individuals with Angelman syndrome.”

The Wagstaff Postdoctoral Fellowship is named in memory of Dr. Joseph E. Wagstaff, a pediatrician, medical geneticist and researcher who diagnosed and treated hundreds of patients with Angelman syndrome and provided much-needed counsel to their families. Dr. Wagstaff was also an invaluable contributor to the ASF and his work with the ASF’s Scientific Advisory Committee has been instrumental in soliciting and evaluating the high-caliber scientific proposals that the ASF funds.

“My brother dedicated his life to his patients and their families,” said ASF board of directors member Mary Wagstaff, sister of Dr. Wagstaff. “It’s thrilling to see his legacy live on through the ASF’s support and dedication to fostering young researchers as they continue their career in Angelman syndrome research, a path that can lead to treatments and an eventual cure for Angelman syndrome.”

 

ABOUT THE ANGELMAN SYNDROME FOUNDATION

The Angelman Syndrome Foundation's mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. The ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery. Since 1996, the ASF has funded 68 research grants totaling more than $4.8 million. The ASF has awarded a majority of these funds ($4.3 million) beginning in 2005.


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