Monday, November 18, 2013
We're excited to announce the 2013 Kate Foundation Glass Ornament Collection! The ornaments are now available for purchase on our website and will begin shipping out on November 25! Thank you!
Friday, March 29, 2013
Saturday, March 23, 2013
Wednesday, March 20, 2013
Thursday, February 14, 2013
Angelman syndrome is a neurological disorder that shares multiple symptoms with Rett syndrome including motor dysfunction, seizures, and communication impairment. In 1997, researchers identified the faulty gene that causes Angelman syndrome, called UBE3A. All children inherit a UBE3A gene from their mother and their father, however, the father’s UBE3A gene is naturally silenced. Angelman syndrome occurs when the working UBE3A gene inherited from the mother is mutated or deleted, leaving no gene to produce the needed UBE3A protein.
In 2011, Ben Philpot, Ph.D. of the University of North Carolina, Chapel Hill (UNC) and his colleagues discovered a drug that can turn “on” the silenced paternal copy of the UBE3A gene in mice. Using a class of drugs called topoisomerase inhibitors, the researchers were able to activate the silenced gene in the neurons of mice. Activating a silenced gene with a drug/compound had never been accomplished before and is considered a breakthrough in neurological research science.
Inspired by the success of this work and its potential application to Rett syndrome science, the Rett Syndrome Research Trust (RSRT) has made a $2.2 million commitment to Dr. Philpot’s UNC team to apply the same drug discovery methodology used in the Angelman screens to find a drug or drugs capable of activating the healthy, dormant MECP2 gene in Rett syndrome. Your generous purchases and donations to the Kate Foundation have contributed directly to the funding of this work. Thank you again.