UNC researchers will attempt to understand the cognitive disabilities in patients with RAS/MARK syndromes.
Thursday, April 19, 2012
CHAPEL HILL, N.C. – In the developing fetus, a number of genes encode the components of a powerful intracellular signaling pathway known as ERK/MAPK. Mutations in these genes have been shown to cause neurodevelopmental delays, cardiac and craniofacial abnormalities, and autism-related disorders.
Collectively, these disorders are known as “Rasopathies,” or “RAS/MAPK syndromes,” a term that incorporates the signaling pathway, RAS, that regulates the expression of autism-linked genes.
With a new 5-year grant totaling roughly $2 million from the National Institutes of Health, researchers at the University of North Carolina at Chapel Hill Neuroscience Center (UNC-NC) will attempt to understand the cognitive disabilities in patients with these syndromes. Co-investigators in this work are UNC-NC director William Snider, MD, professor of neurology and cell and molecular physiology, and neuroscientist Benjamin Philpot, PhD, associate professor of cell and molecular physiology.
“We plan to disrupt this ERK/MAPK pathway in specific cell types in the developing brains of mice,” Snider says. “We will also generate a mouse model that allows reversal of ERK/MAPK signaling abnormalities in postnatal animals. Ability to manipulate the pathway in postnatal life may enable the development of new treatment strategies.”