In This Section
Elaine R. Mardis, PhD

Elaine R. Mardis, PhD

Institute for Genomic Medicine, Nationwide Children's Hospital
Columbus, Ohio

Class of 2019

For her trailblazing efforts to develop and apply next-generation sequencing technologies to the characterization of cancer genomes, which has better defined the landscape of germline and somatic alterations and helped drive new treatment strategies.

An internationally recognized leader, Dr. Mardis has spearheaded innovative DNA sequencing efforts that have impacted the fields of precision medicine and cancer genomics. Her pioneering efforts have led to the development and utilization of emerging next-generation sequencing technologies to define and characterize human genomes and transcriptomes. Dr. Mardis was a central contributor to the Human Genome Project, developing methods and automation protocols to effectively streamline the sequencing process, while simultaneously implementing critical quality control protocols. The completion of the Human Genome Project has since provided an unparalleled reference genome by which to investigate the complexities of various cancers. Importantly, Dr. Mardis has since contributed to the establishment of additional orthogonal technologies and their application to cancer characterization, and to computational methods for variant detection from next-generation sequencing data.

In a subsequent groundbreaking study, Dr. Mardis co-led efforts to sequence the first complete genome from an acute myeloid leukemia (AML) patient using next-generation sequencing, comparing the genomes of cancerous and normal cells that demonstrated the discovery potential of this unbiased approach. Dr. Mardis also shared leadership of the St. Jude-Washington University Pediatric Cancer Genome Project as well as The Cancer Genome Atlas project, which is now heralded for contributing to the molecular characterization of over 20,000 biospecimens spanning 33 tumor types, including 10 rare cancers. She was also the first to conduct whole genome sequencing of breast cancer patients enrolled in a clinical trial and was the first to sequence and compare a primary breast tumor genome with that of its metastasis and a xenograft of the metastasis. Recently, her development of a clinical test for Lynch Syndrome mutations and microsatellite status of endometrial cancers has identified mutations that shape treatment with targeted and immunotherapy regimens. Dr. Mardis also contributed to the development of personalized Variant Antigens by Cancer Sequencing (pVac-Seq), a computational approach to neoantigen discovery that has been used in personalized vaccine clinical trials. Collectively, these pivotal breakthroughs have been vital to ongoing precision medicine efforts that identify therapeutic treatment strategies for cancer patients.

Career Highlights

2019 President, AACR
2019 Elected Member, National Academy of Medicine, Washington, D.C.
2018-2020 Executive Committee, AACR
2019 The Heath Memorial Award, MD Anderson Cancer Center
2016 The Morton K. Schwartz Award for Significant Contributions in Cancer Research Diagnostics, American Association for Clinical Chemistry, Washington, D.C.
2015-2018 Board of Directors, AACR
2014-present Thompson-Reuters Top 10 Most Cited Researchers, Toronto, Canada
2012-present Senior Editor, Molecular Cancer Research
2012 George Engelmann Interdisciplinary Award, St. Louis Academy of Science
2010 Translational Medicine Award, Scripps Research Institute
2009 US News and World Report, “Medical Pioneers”, Washington, D.C.