Tiny but mighty is a good way of describing our genome – the collection of our DNA. Although not visible to the naked eye, the human genome holds around 21,000 genes and millions of DNA variants, containing the information needed to maintain an organism throughout its life.
The Waisman Center has a long history of excellent and remarkable leadership. Each director of the center has played a pivotal role in advancing Waisman’s research, service, training, and outreach efforts. This article highlights the Waisman Center’s directors, both past and present, that have allowed the center to proudly follow its mission of advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Be included! Families of children with Down syndrome are invited to participate in our new study about genetics and health. The Waisman BioLibrary is recruiting youth with Down syndrome ages 0 – 17 years. Families …
Four Waisman Center investigators will dig deeper into the function of genes implicated in autism and brain development with support from the prestigious Simons Foundation 2022 Pilot Award.
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.
Research has shown voluntary running is an activity most commonly associated with the reversal of negative impacts of aging and neurodegeneration, but little is understood about why that is.
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.
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.
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 …