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Shvartsman Team Points Way to Precision Therapies for RAS Disorders

“RASopathies” are caused by mutations within the Ras signaling pathway, by which cells transmit information from their exterior to their interior.  These genetic disorders, which affect approximately 1 in every 1000 children, can result in distinct facial features, developmental delays, cognitive impairment, and heart problems.  Today, the only treatments for RASopathies attempt to address the symptoms; there is currently no therapy for the underlying disruption of the signaling pathway.  But a research team led by Stanislav Shvartsman, Professor of Chemical and Biological Engineering and in the Lewis-Sigler Institute for Integrative Genomics, using zebrafish and fruit flies as model organisms, has developed both a way to rank the severity of different mutations involved in RASopathies, and to show that some RASopathies result from insufficient signaling along the pathway, rather than excessive signaling as generally believed.  These findings suggest targeted approaches to the treatment of these common genetic disorders.  For more information, see the story on the Princeton University homepage.  Those with journal access can access the two research articles:  “In Vivo Severity Ranking of Ras Pathway Mutations Associated with Developmental Disorders”, published January 3 in the Proceedings of the National Academy of Sciences, and “Divergent Effects of Intrinsically Active MEK Variants on Developmental Ras Signaling”, published February 6 in Nature Genetics.