Laurel Cooper is 8 years old and full of sass and spunk. She finds it hilarious when her older sister, Annalise, gets into trouble. She loves music, and being in the thick of things. Cooper also has Rett syndrome, a rare, non-inherited neurological disorder that mostly affects girls and causes severe deterioration in their ability to speak, eat, move and even breathe easily. Rett syndrome has no cure.
Rett syndrome
Qiang Chang, PhD
Rett syndrome (RTT) is a debilitating neurodevelopmental disorder caused by mutations in the MECP2 gene. To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines.
Xinyu Zhao, PhD, develops “green” mouse model for Rett Syndrome
The majority of individuals with Rett syndrome are female and are considered genetically ‘mosaic’ due to random inactivation of the X-chromosome (XCI) which occurs in around half of all their cells.