Kathleen H. Burns, MD, PhD
Year elected: 2018
Current membership category: Active
Johns Hopkins University School of Medicine
733 North Broadway MRB 447
Baltimore, MD 21205
United States of America
Dr. Burns is a physician-scientist and practicing hematopathologist at the Johns Hopkins University School of Medicine. Her research laboratory studies roles mobile genetic elements play in human disease. Her lab was one of the first to develop a targeted method to amplify mobile DNA insertion sites in the human genome for comprehensive insertion mapping. Their studies have shown that mobile element insertions represent a significant source of inherited structural variation in human populations, and the group has identified numerous potentially functional insertion variants at loci associated with human disease risk. Her lab also studies the expression and activity of mobile DNAs in human cancers. The lab has developed reagents to detect proteins encoded by active retrotransposons, namely, Long INterspersed Element-1 (LINE-1) open reading frame 1p (ORF1p) and ORF2p. They have shown aberrant expression of ORF1p in a wide variety of human cancers. This activation of LINE-1 is associated with somatic activity, and the Burns lab has mapped insertions of LINE-1 sequences acquired during the clonal evolution of gastrointestinal and ovarian cancers. The lab has ongoing projects to discern the functional consequences of somatically-acquired mobile element insertions, as well as other effects of ORF1p and ORF2p expression in malignancy. Dr. Burns recently served as co-Chair of a strategic workshop at the National Cancer Institute on roles of mobile genetic elements in cancer, and as the Organizer for a FASEB meeting on Mobile DNAs in the Mammalian Genome. She has authored numerous primary articles and reviews on human transposons and their roles in disease. Dr. Burns also serves as Vice Chair for Research for the Department of Pathology at Johns Hopkins, and as the inaugural Director of the institution’s Physician Scientist Training Program (PSTP).