Profile: Benjamin Philpot

In November 2009, Benjamin Philpot's research team experienced what all scientists hope for and most never experience: a Eureka moment.The discovery began many months earlier with a wild idea for finding a treatment for Angelman syndrome, a rare disorder characterized by developmental delay, lack of speech, and seizures.The syndrome is caused by mutations in a gene called UBE3A. In the neurons of healthy people, the copy of this gene inherited from the father is silenced and the maternal copy expressed. In individuals with Angelman syndrome, mutations or deletions on the maternal copy prevent the UBE3A protein from forming.Philpot’s team at the University of North Carolina, Chapel Hill, set out to answer a question that had been floating around scientific meetings and review papers for years: What if a drug could un-silence the paternal copy?Read more at...SFARI.org, December 2012.