Maravillas del Waisman (Wonders of Waisman)

Un espacio creado por el Waisman Center, Universidad de Wisconsin-Madison para hablar con científicos y proveedores de salud acerca de discapacidades de desarrollo como autismo y síndrome de Down, enfermedades neurodegenerativas como Alzheimer y servicios …

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.

Connecting research and clinics to help those with autism

One of the goals of the study is to discover how genetic variations in young people with ASD are related to brain changes that lead to clinical symptoms of the disorder, such as impaired social interaction and repetitive behaviors.

“If you think about it, in between genes and clinical symptoms [of ASD] are changes in brain development,” says Lainhart. “Genes first impact brain development, and as a result of changes in how the brain develops, there are clinical manifestations of what we recognize as ASD.”

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.