Reaching beyond Rett Syndrome: How a family and the Waisman Center are working to improve care for those with rare syndrome

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.

Genomics and genetics cluster hire brings expansion into new research avenues

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.

Leading by Example: A Spotlight on Each of Waisman’s Directors

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.

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.