Pilot study to validate three novel classes of small molecules to unsilence paternal Ube3a allele
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 as potential therapeutics for Angelman syndrome. The potential clinical use of topoisomerase inhibitors is still being pursued by Dr. Philpot and various pharmaceutical companies. Not one to rest on his previous laurels, Dr. Philpot is now examining three new compounds that may achieve the same effect through different mechanisms.
Dr. Philpot’s goal is to determine if these new drugs can unsilence paternal Ube3a in an AS mouse model and if they can be safely administered. He will be evaluating the mechanism by which they act, the potential side effects, how well the drugs penetrate the brain, and the optimal method of delivering the drugs to the brain. This work focuses on developing these drugs as potential therapeutic approaches to cure AS.
The testing of these new compounds originated out of research conducted in partnership with Dr. Philpot and Pfizer, Inc.