BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2013 Boston Marathon
RETT SYNDROME ASSN OF MASSACHUSETTS wrote -
Team Rett FundRacers will be raising money for research in hopes that Rett syndrome can be reversed!
Seen almost exclusively in girls, Rett syndrome is a unique developmental disorder caused by mutations on the X chromosome on a gene called MECP2. A rare disease, the incidence of Rett syndrome is about 1 in 10,000 females. The course of Rett syndrome, including the age of onset and severity varies from child to child. As the syndrome progresses, most children lose purposeful use of their hands and the ability to speak. Other symptoms may include loss of motor skills, breathing and cardiac irregularities, seizures, digestive problems, scoliosis, and tremors.
Although Rett syndrome leaves all girls and women dependent on others for all of their basic needs, tremendous advances in research have been made since the MECP2 mutation was discovered in 1999.
Team Rett 2013 will be raising funds for Dr.Yun Li's research project at The Whitehead Institute, MIT called Modeling Rett syndrome using TALEN technology in human pluripotent stem cells.
Dr. Li will establish new models of Rett syndrome using genetically engineered human pluripotent stem cells. These cells will serve as an unlimited source of disease-specific human materials. These cells will be used to study the molecular, cellular, biochemical and electrophysiological aspects of Rett cells and how they react to existing drugs at a very fast pace. Rather than using mouse models which is an arduous process, hundreds of drugs can be tested with these stem cells to see which ones have positive effects. As a result, therapeutic strategies to prevent, delay and reverse Rett progression may be developed much more quickly, giving parents tremendous hope for a better future for their daughters.
Please support Team Rett in its efforts to fund research that may lead to a cure for Rett syndrome!