Newly funded research to study astrocyte dysfunction in Rett syndrome

The lab of Waisman Center director, Qiang Chang, PhD, professor of medical genetics and neurology, has received $1 million in funding from the Department of Defense to study the dysfunction of astrocytes, a key brain cell that supports neurons, in Rett syndrome.

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.

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

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.