RS

Russell Spencer-Smith

Medical University of South Carolina, National Cancer Institute, University of Illinois at Chicago, Kingston University

ORCID iD 0000-0002-8865-0520
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About

The RAS-MAPK pathway is hyperactivated in 30-40% of human cancers; however, there remains a dearth of effective drugs that target this pathway. The primary objective of our lab is to uncover new vulnerabilities in the RAS-MAPK pathway through the study of rare disease-associated mutations therein. We have a particular interest in the mutations that cause RASopathy developmental syndromes. The RASopathies, which include Noonan, cardiofaciocutaneous (CFC), and Costello syndrome, are caused by germline mutations throughout the RAS-MAPK pathway and collectively occur in 1:1000-2000 live births. While phenotypically distinct, RASopathies can be broadly characterized by distinct craniofacial features, congenital heart defects, short stature, autism traits and an increased risk of certain cancers. Notably, these mutations occur in many of the same genes as in human cancer, however because RASopathy mutations must be tolerated during development they are often distinct from those found in cancer, either in terms of their location within the protein or in the residue that is mutated. The characterization of these unique mutations can uncover new functional regions in pathway members and identify novel drug targets in frequent oncoproteins.

Employment

  • Medical University of South Carolina Assistant Professor
    2023 - Present
  • National Cancer Institute Postdoctoral Fellow
    2017 - 2023

Education

  • University of Illinois at Chicago PhD in Molecular & Cellular Pharmacology
    2012 - 2017
  • Kingston University MSc in Molecular Genetics
    2010 - 2012
  • Kingston University BSc in Biochemistry
    2006 - 2010

Projects & Funding

Projects & funding information is unavailable.

Publications (18)