Elaine Mardis

Last updated
Elaine Mardis
Alma mater University of Oklahoma
Scientific career
Institutions McDonnell Genome Institute
Washington University School of Medicine
Bio-Rad Laboratories

Elaine R. Mardis (born September 28, 1962) is the co-executive director of the Institute for Genomic Medicine at Nationwide Children's Hospital, where she also serves as the Nationwide Foundation Endowed Chair in Genomic Medicine. [1] She also is professor of pediatrics at the Ohio State University College of Medicine. [2] Mardis’s research focuses on the genomic characterization of cancer and its implications for cancer medicine. [3] She was part of the team that reported the first next-generation-based sequencing of a whole cancer genome, [4] [5] and participated extensively in The Cancer Genome Atlas (TCGA) and the Pediatric Cancer Genome Project (PCGP). [3] [6] [7] [8]

Contents

Biography

Mardis was born in North Platte, Nebraska. She gained a passion for science at an early age, and credits her father, a chemistry professor for more than 30 years, for nurturing this passion. [9] [10]

She received her undergraduate degree in Zoology from the University of Oklahoma in 1984. [1] During her senior year she took a course in biochemistry that was taught by Bruce Roe, PhD, which says opened her eyes to the world of molecular biology. [9] She stayed at the University of Oklahoma for her doctoral studies under the supervision of Dr. Roe, who was one of the first academic scientists to have a fluorescent DNA sequencer in the laboratory. [10] As a result, during her doctoral work Mardis learned the art of DNA sequencing, at a time when few others were doing this. [9] [10]

After obtaining her PhD in chemistry and biochemistry in 1989, Mardis did postgraduate work in industry at Bio-Rad Laboratories in Hercules, California. [1]

In 1993, Mardis joined the faculty of Washington University School of Medicine. [1] Over the next 23 years, she held several and academic and leadership roles at the University, including serving as co-director of the McDonnell Genome Institute. [3] In that position, she contributed substantially to the sequencing and analysis of the human genome, [11] and was instrumental in establishing the utility of massively parallel sequencing technologies for understanding cancer biology. [3] Her work in cancer genetics and genomics has provided insights into the genetic drivers of many types of cancer, including acute myeloid leukemia, [7] [12] [13] breast cancer, [14] [15] glioblastoma, [16] and lung adenocarcinoma. [17] [18] By better defining the landscape of germline and somatic alterations, this research helps drive new strategies for treating cancer, and is central to the concept of precision medicine.

Since joining Nationwide Children's Hospital in 2016, Dr. Mardis has turned the focus of her research to the incorporation of next-generation sequencing assays and established knowledge about cancer genomics into clinical and therapeutic decision-making, and into the design of new approaches to cancer immunotherapy. [3] [19] [20]

In 2015, Mardis helped launch an open access, precision medicine journal, Molecular Case Studies, in conjunction with Cold Spring Harbor Laboratory Press. [21] She currently serves as Editor-in-Chief. [22] In 2020 she was Deputy Editor-in-Chief of Disease Models & Mechanisms journal, with Elizabeth Patton the Editor-in-Chief. [23] She has co-authored more than 250 articles in many prestigious publications, such as Cell, Journal of Clinical Oncology, Blood and Cancer Epidemiology, Biomarkers & Prevention. [24]

Mardis was elected as president of the American Association for Cancer Research for 2019–2020. [25]

Awards and honors

Related Research Articles

<span class="mw-page-title-main">Genomics</span> Discipline in genetics

Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.

<span class="mw-page-title-main">Single-nucleotide polymorphism</span> Single nucleotide in genomic DNA at which different sequence alternatives exist

In genetics and bioinformatics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population, many publications do not apply such a frequency threshold.

<span class="mw-page-title-main">Wellcome Sanger Institute</span> British genomics research institute

The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust.

Mark Bender Gerstein is an American scientist working in bioinformatics and Data Science. As of 2009, he is co-director of the Yale Computational Biology and Bioinformatics program.

The Cancer Genome Atlas (TCGA) is a project to catalogue the genomic alterations responsible for cancer using genome sequencing and bioinformatics. The overarching goal was to apply high-throughput genome analysis techniques to improve the ability to diagnose, treat, and prevent cancer through a better understanding of the genetic basis of the disease.

<span class="mw-page-title-main">Victor Velculescu</span>

Victor E. Velculescu is a Professor of Oncology and Co-Director of Cancer Biology at Johns Hopkins University School of Medicine. He is internationally known for his discoveries in genomics and cancer research.

Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.

Jeffrey Ivan Gordon is a biologist and the Dr. Robert J. Glaser Distinguished University Professor and Director of the Center for Genome Sciences and Systems Biology at Washington University in St. Louis. He is internationally known for his research on gastrointestinal development and how gut microbial communities affect normal intestinal function, shape various aspects of human physiology including our nutritional status, and affect predisposition to diseases. He is a member of the National Academy of Sciences, the American Academy of Arts and Sciences, the Institute of Medicine of the National Academies, and the American Philosophical Society.

<span class="mw-page-title-main">Whole genome sequencing</span> Determining nearly the entirety of the DNA sequence of an organisms genome at a single time

Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.

Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s).

<span class="mw-page-title-main">$1,000 genome</span> Era of predictive and personalized medicine

The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of fully sequencing an individual's genome (WGS) is roughly one thousand USD. It is also the title of a book by British science writer and founding editor of Nature Genetics, Kevin Davies. By late 2015, the cost to generate a high-quality "draft" whole human genome sequence was just below $1,500.

Michael Christopher Wendl is a mathematician and biomedical engineer who has worked on DNA sequencing theory, covering and matching problems in probability, theoretical fluid mechanics, and co-wrote Phred. He was a scientist on the Human Genome Project and has done bioinformatics and biostatistics work in cancer. Wendl is of ethnic German heritage and is the son of the aerospace engineer Michael J. Wendl.

In DNA sequencing, a read is an inferred sequence of base pairs corresponding to all or part of a single DNA fragment. A typical sequencing experiment involves fragmentation of the genome into millions of molecules, which are size-selected and ligated to adapters. The set of fragments is referred to as a sequencing library, which is sequenced to produce a set of reads.

SNV calling from NGS data is any of a range of methods for identifying the existence of single nucleotide variants (SNVs) from the results of next generation sequencing (NGS) experiments. These are computational techniques, and are in contrast to special experimental methods based on known population-wide single nucleotide polymorphisms. Due to the increasing abundance of NGS data, these techniques are becoming increasingly popular for performing SNP genotyping, with a wide variety of algorithms designed for specific experimental designs and applications. In addition to the usual application domain of SNP genotyping, these techniques have been successfully adapted to identify rare SNPs within a population, as well as detecting somatic SNVs within an individual using multiple tissue samples.

Tumour heterogeneity describes the observation that different tumour cells can show distinct morphological and phenotypic profiles, including cellular morphology, gene expression, metabolism, motility, proliferation, and metastatic potential. This phenomenon occurs both between tumours and within tumours. A minimal level of intra-tumour heterogeneity is a simple consequence of the imperfection of DNA replication: whenever a cell divides, a few mutations are acquired—leading to a diverse population of cancer cells. The heterogeneity of cancer cells introduces significant challenges in designing effective treatment strategies. However, research into understanding and characterizing heterogeneity can allow for a better understanding of the causes and progression of disease. In turn, this has the potential to guide the creation of more refined treatment strategies that incorporate knowledge of heterogeneity to yield higher efficacy.

Single-cell sequencing examines the nucleic acid sequence information from individual cells with optimized next-generation sequencing technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment. For example, in cancer, sequencing the DNA of individual cells can give information about mutations carried by small populations of cells. In development, sequencing the RNAs expressed by individual cells can give insight into the existence and behavior of different cell types. In microbial systems, a population of the same species can appear genetically clonal. Still, single-cell sequencing of RNA or epigenetic modifications can reveal cell-to-cell variability that may help populations rapidly adapt to survive in changing environments.

In genetics, coverage is one of several measures of the depth or completeness of DNA sequencing, and is more specifically expressed in any of the following terms:

The mutanome is the entirety of somatic cancer mutations in an individual tumor.

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Circular consensus sequencing (CCS) is a DNA sequencing method that is used in conjunction with single-molecule real-time sequencing to yield highly accurate long-read sequencing datasets with read lengths averaging 15–25 kb with median accuracy greater than 99.9%. These long reads, which are created via the formation of consensus sequencing obtained from multiple passes on a single DNA molecule, can be used to improve results for complex applications such as single nucleotide and structural variant detection, genome assembly, assembly of difficult polyploid or highly repetitive genomes, and assembly of metagenomes.

References

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  10. 1 2 3 Arbanas, Caroline (September 10, 2008). "Genome technology wizard". The Source, Washington University in St. Louis . Retrieved May 1, 2019.
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  12. ↑ Mardis, Elaine R.; Ding, Li; Dooling, David J.; Larson, David E.; McLellan, Michael D.; Chen, Ken; Koboldt, Daniel C.; Fulton, Robert S.; Delehaunty, Kim D.; McGrath, Sean D.; Fulton, Lucinda A.; Locke, Devin P.; Magrini, Vincent J.; Abbott, Rachel M.; Vickery, Tammi L.; Reed, Jerry S.; Robinson, Jody S.; Wylie, Todd; Smith, Scott M.; Carmichael, Lynn; Eldred, James M.; Harris, Christopher C.; Walker, Jason; Peck, Joshua B.; Du, Feiyu; Dukes, Adam F.; Sanderson, Gabriel E.; Brummett, Anthony M.; Clark, Eric; et al. (2009). "Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome". The New England Journal of Medicine . 361 (11): 1058–1066. doi:10.1056/NEJMoa0903840. PMC   3201812 . PMID   19657110.
  13. ↑ Ding, Li; Ley, Timothy J.; Larson, David E.; Miller, Christopher A.; Koboldt, Daniel C.; Welch, John S.; Ritchey, Julie K.; Young, Margaret A.; Lamprecht, Tamara; McLellan, Michael D.; McMichael, Joshua F.; Wallis, John W.; Lu, Charles; Shen, Dong; Harris, Christopher C.; Dooling, David J.; Fulton, Robert S.; Fulton, Lucinda L.; Chen, Ken; Schmidt, Heather; Kalicki-Veizer, Joelle; Magrini, Vincent J.; Cook, Lisa; McGrath, Sean D.; Vickery, Tammi L.; Wendl, Michael C.; Heath, Sharon; Watson, Mark A.; Link, Daniel C.; et al. (2012). "Clonal evolution in relapsed acute myeloid leukemia revealed by whole-genome sequencing". Nature. 481 (7382): 506–10. Bibcode:2012Natur.481..506D. doi:10.1038/nature10738. PMC   3267864 . PMID   22237025.
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  16. ↑ McLendon, Roger; Friedman, Allan; Bigner, Darrell; Van Meir, Erwin G.; Brat, Daniel J.; m. Mastrogianakis, Gena; Olson, Jeffrey J.; Mikkelsen, Tom; Lehman, Norman; Aldape, Ken; Alfred Yung, W. K.; Bogler, Oliver; Vandenberg, Scott; Berger, Mitchel; Prados, Michael; Muzny, Donna; Morgan, Margaret; Scherer, Steve; Sabo, Aniko; Nazareth, Lynn; Lewis, Lora; Hall, Otis; Zhu, Yiming; Ren, Yanru; Alvi, Omar; Yao, Jiqiang; Hawes, Alicia; Jhangiani, Shalini; Fowler, Gerald; et al. (2008). "Comprehensive genomic characterization defines human glioblastoma genes and core pathways". Nature. 455 (7216): 1061–8. Bibcode:2008Natur.455.1061M. doi:10.1038/nature07385. PMC   2671642 . PMID   18772890.
  17. ↑ Ding, Li; Getz, Gad; Wheeler, David A.; Mardis, Elaine R.; McLellan, Michael D.; Cibulskis, Kristian; Sougnez, Carrie; Greulich, Heidi; Muzny, Donna M.; Morgan, Margaret B.; Fulton, Lucinda; Fulton, Robert S.; Zhang, Qunyuan; Wendl, Michael C.; Lawrence, Michael S.; Larson, David E.; Chen, Ken; Dooling, David J.; Sabo, Aniko; Hawes, Alicia C.; Shen, Hua; Jhangiani, Shalini N.; Lewis, Lora R.; Hall, Otis; Zhu, Yiming; Mathew, Tittu; Ren, Yanru; Yao, Jiqiang; Scherer, Steven E.; et al. (2008). "Somatic mutations affect key pathways in lung adenocarcinoma". Nature. 455 (7216): 1069–75. Bibcode:2008Natur.455.1069D. doi:10.1038/nature07423. PMC   2694412 . PMID   18948947.
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  20. ↑ "Elaine R Mardis, PhD". Ohio State University. Retrieved May 1, 2019.
  21. ↑ "Press release. Cold Spring Harbor Laboratory Press" (PDF) (Press release). Retrieved May 1, 2019.
  22. ↑ "About Cold Spring Harbor Molecular Case Studies" . Retrieved May 1, 2019.
  23. ↑ "Editor biographies | Disease Models & Mechanisms | The Company of Biologists | Disease Models & Mechanisms | The Company of Biologists". journals.biologists.com. Retrieved 2021-08-11.
  24. ↑ "Elaine Mardis, PhD | Ohio State cancer researcher". The James - OSUCCC. Retrieved 2025-01-31.
  25. ↑ "Elaine R. Mardis, PhD, Named American Association for Cancer Research President-Elect 2018-2019" (Press release). Nationwide Children's Hospital. March 21, 2012. Retrieved May 1, 2019.
  26. ↑ "Distinguished Alumni". Oklahoma University. Retrieved May 1, 2019.
  27. ↑ "The Morton K. Schwartz Award for Significant Contributions in Cancer Research Diagnostics". AACC. Retrieved May 1, 2019.
  28. ↑ "PMWC Speaker biography: Awards" . Retrieved May 1, 2019.
  29. ↑ "American Association for Cancer Research Announces 2019 Class of Fellows of the AACR Academy". AACR. March 25, 2019. Retrieved May 1, 2019.
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