SharonAnnSavageMD

Summary

• My internationally renowned research program combines clinical, genetic, and epidemiologic studies to advance understanding of cancer etiology and improve the lives of individuals with complex cancer-prone disorders.
  As Clinical Director of the Division of Cancer Epidemiology and Genetics (DCEG) at the NCI, I lead numerous strategic initiatives, oversee all clinical activities in the Division, ensure appropriate human subjects research protections, and provided thoughtful stewardship of research funding for all DCEG clinical activities. As Director of the Clinical Genetics Branch, I oversee 9 tenured PIs, 3 tenure-track investigators, and more than 40 clinical, technical, and administrative support personnel.
  I apply my expertise in genetics, clinical medicine, and epidemiology to discover the causes of cancer, understand the clinical manifestations of complex cancer-prone disorders, and apply these findings to individuals and populations at risk. Initiated in 2011, my Li-Fraumeni syndrome (LFS) study is an internationally recognized hub for > 900 participants and 14 international collaborative institutions and leads the field in understanding clinical and genetic aspects of LFS. My work in inherited bone marrow failure syndromes (IBMFS) has discovered 9 new causative genes and conducted unprecedented clinical phenotyping leading to changes in patient management. Nested within the IBMFS program, I have discovered 5 novel causes of dyskeratosis congenita/telomere biology disorders (DC/TBDs), defined new phenotypes, quantified cancer risk, and conducted the most comprehensive genotype-phenotype study, to date.