Several months after Ella’s first birthday, she received her diagnosis of Rett syndrome. “It was devastating, life changing. It’s rare – we hadn’t heard of it before we started this journey and it’s a very difficult diagnosis to process,” Jennifer says.
Rett syndrome
A life full of love and magic: Eva S. Borenitsch
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Qiang Chang, PhD – Slide of the Week
Rett syndrome (RTT) is a severe X chromosome-linked debilitating neurodevelopmental disorder caused by mutations in the MECP2 gene affects 1 in 10,000-15,000 girls with no effective treatment. Our lab has been using RTT induced pluripotent stem cells (iPSC) and neurons and astrocytes differentiated from iPSC as a platform to understand RTT disease mechanisms and develop treatment.
Qiang Chang, PhD – Slide of the Week
Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. Although altered interneuron development and function are clearly demonstrated in RTT mice, a particular mode of inhibition, tonic inhibition, has not been carefully examined.
Qiang Chang, PhD – Slide of the Week
Astrocytes play an important role in Rett syndrome (RTT) disease progression. Although the non-cell-autonomous effect of RTT astrocytes on neurons was documented, cell-autonomous phenotypes and mechanisms within RTT astrocytes are not well understood. We report that spontaneous calcium activity is abnormal in RTT astrocytes in vitro, in situ, and in vivo.
Unraveling the mysteries of a rare neurological disorder
Could understanding the ebb and flow of calcium in brain cells provide clues that help researchers develop a treatment for a devastating neurological disease? Rett syndrome, a rare, non-inherited neurological disorder that mostly affects girls …
Meet the new director: Qiang Chang, PhD
A cutting-edge scientist and a family chef as well as a former professional chess player…meet Qiang Chang, the next director of the Waisman Center! Qiang Chang, a professor of medical genetics and neurology and Waisman …
2018 Waisman Center calendar – March
Searching for understanding, and a cure: Rett syndrome is a rare non-inherited neurological disorder that mostly affects girls and causes severe deterioration in their ability to speak, walk, eat and even breathe easily. This disease …
NBC15 highlights Rett syndrome and Waisman Center research
NBC15’s Morning Show and reporter Kalie Greenberg shared a story about Laurel Cooper, a 9-year-old girl who has Rett syndrome, and her family. Rett syndrome is a rare, non-inherited neurological disorder that mostly affects girls …
Waisman research into rare syndrome offers hope for families
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.