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.”
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.
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 …
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 …
Several Waisman Center investigators played key roles in crafting research proposals that were recently selected as ‘cluster hires’ by the University of Wisconsin-Madison. UW–Madison’s Cluster Hiring Initiative was launched in 1998 as an innovative partnership …
Qiang Chang, PhD, presentation: “Understanding Developmental Disabilities ‐ Rett Syndrome as a Case Study”
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 (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.
Title: Altered flip/flop alternative splicing causes a reduction of the decay time constant of the AMPA receptor. Legend: (a) RNA-Seq analysis reveals a significant change of the relative flip/flop ratio of Gria2 in Mecp2 KO …
Title: Cell cycle-linked MeCP2 phosphorylation modulates adult neurogenesis Legend: Representative images (left) of adult neural progenitor cells (aNPCs) isolated from wild type (WT) and Mecp2S421A;S424A/y hippocampus with BrdU pulse labeling, followed by immunocytochemistry analysis. (middle) Representative …
