The Angel Runners Mission:
Our primary goal is to raise funds for research so that a cure may one day be found and implemented in those who battle with Angelman Syndrome. Our secondary goal is to create awareness around the globe, because with awareness comes outreach.
The Gene:
The gene responsible for Angelman syndrome (AS), UBE3A, is unique in that it is one of few genes in the CNS that undergoes imprinting, a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. Angelman syndrome arises from a variety of abnormalities on the chromosome 15, with each resulting in the functional loss of the maternal UBE3A gene. http://weeberlab.com/as.html
The Cure:
In February 2007 Dr. Edwin Weeber and his colleagues "reversed the neurological deficits in a mouse model of Angelman syndrome by preventing the inhibition of CaMKII, an enzyme highly expressed in brain regions affected by Angelman syndrome" http://www.mc.vanderbilt.edu/reporter/index.html?ID=5323
Our primary goal is to raise funds for research so that a cure may one day be found and implemented in those who battle with Angelman Syndrome. Our secondary goal is to create awareness around the globe, because with awareness comes outreach.
The Gene:
The gene responsible for Angelman syndrome (AS), UBE3A, is unique in that it is one of few genes in the CNS that undergoes imprinting, a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. Angelman syndrome arises from a variety of abnormalities on the chromosome 15, with each resulting in the functional loss of the maternal UBE3A gene. http://weeberlab.com/as.html
The Cure:
In February 2007 Dr. Edwin Weeber and his colleagues "reversed the neurological deficits in a mouse model of Angelman syndrome by preventing the inhibition of CaMKII, an enzyme highly expressed in brain regions affected by Angelman syndrome" http://www.mc.vanderbilt.edu/reporter/index.html?ID=5323