As part of a national focus to better understand child health and development, Chiara Manzini, Ph.D., assistant professor of pharmacology and physiology at the George Washington University School of Medicine and Health Sciences, was awarded a $747,000 grant to research the causes of severe intellectual disability and autism.
With the support of this grant, Manzini and her research team will develop a model of intellectual disability and autism, caused by loss of function of the CC2D1A gene.
"We are exploring the function of the gene and of the mutation that causes disease, both using cell-based systems, analysis of neurons generated from animal models, and studying the behavior in mouse models to better understand the pathogenesis of the disease," said Manzini. "This gene regulates multiple signaling mechanisms inside the cells and we are hoping to understand these mechanisms first, to then figure out ways to modulate them to have an impact on the disease."
The grant, which started as a career development grant during Manzini's post doctorate career, was given by the Eunice Kennedy Shriver National Institute of Child Health & Human Development for her project, titled "Intracellular signaling in the development of human cognitive function." This grant is meant to act as a stepping stone to further Manzini's research, which will lay the ground work to study the treatment of the disease.
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