12 February 2016
Stanislav Shvartsman
Lewis-Sigler Institute for Integrative Genomics
Princeton University
The Ras pathway is a highly conserved cascade of protein interactions and enzymatic reactions that controls a wide range of cellular processes. Deregulated Ras signaling, resulting from somatic mutations in components of this pathway, is associated with multiple cancers. More recently, a new class of mutations in the very same components, has been discovered in the germline and shown to cause a broad class of human developmental abnormalities, including heart defects, craniofacial dysmporphisms, and neurocognitive delays. We are interested in the quantitative understanding of the mechanisms by which these phenotypes emerge as a result of mutations in well-studied components of the Ras pathway. Towards this end, we are combining imaging studies in flies and fish, biochemical kinetics in vitro, and mathematical models. I will summarize our first results in this project and discuss open questions for experiments and theory.