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]

Mardis was elected as president of the American Association for Cancer Research for 2019–2020. [24]

Awards and honors

Related Research Articles

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Genomics is an interdisciplinary field of 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.

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<span class="mw-page-title-main">Human Genome Project</span> Human genome sequencing programme

The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning for the project started after it was adopted in 1984 by the US government, and it officially launched in 1990. It was declared complete on April 14, 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022.

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 genetic mutations 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.

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Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, 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.

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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.

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References

  1. 1 2 3 4 "Nationwide Children's Hospital: Find a Doctor" . Retrieved May 1, 2019.
  2. ↑ "The Lantern". 26 June 2018. Retrieved May 1, 2019.
  3. 1 2 3 4 5 6 "PMWC Speaker Biography" . Retrieved May 1, 2019.
  4. ↑ Ley, Timothy J.; Mardis, Elaine R.; Ding, Li; Fulton, Bob; McLellan, Michael D.; Chen, Ken; Dooling, David; Dunford-Shore, Brian H.; McGrath, Sean; Hickenbotham, Matthew; Cook, Lisa; Abbott, Rachel; Larson, David E.; Koboldt, Dan C.; Pohl, Craig; Smith, Scott; Hawkins, Amy; Abbott, Scott; Locke, Devin; Hillier, Ladeana W.; Miner, Tracie; Fulton, Lucinda; Magrini, Vincent; Wylie, Todd; Glasscock, Jarret; Conyers, Joshua; Sander, Nathan; Shi, Xiaoqi; Osborne, John R.; et al. (2008). "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome". Nature . 456 (7218): 66–72. Bibcode:2008Natur.456...66L. doi:10.1038/nature07485. PMC   2603574 . PMID   18987736.
  5. ↑ Grady, Denise (November 6, 2008). ""Scientists Decode Set of Cancer Genes." New York Times, November 5, 2008". The New York Times . Retrieved May 1, 2019.
  6. ↑ "The Cancer Genome Atlas Timeline & Milestones". National Cancer Institute. 2018-06-13. Retrieved May 1, 2019.
  7. 1 2 Cancer Genome Atlas Research Network; 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): 1061–1068. Bibcode:2008Natur.455.1061M. doi:10.1038/nature07385. PMC   2671642 . PMID   18772890.
  8. ↑ Zhang, J.; Wu, G.; Miller, C. P.; Tatevossian, R. G.; Dalton, J. D.; Tang, B.; Orisme, W.; Punchihewa, C.; Parker, M.; Qaddoumi, I.; Boop, F. A.; Lu, C.; Kandoth, C.; Ding, L.; Lee, R.; Huether, R.; Chen, X.; Hedlund, E.; Nagahawatte, P.; Rusch, M.; Boggs, K.; Cheng, J.; Becksfort, J.; Ma, J.; Song, G.; Li, Y.; Wei, L.; Wang, J.; Shurtleff, S.; et al. (2013). "Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas". Nature Genetics . 45 (6): 602–612. doi:10.1038/ng.2611. PMC   3727232 . PMID   23583981.
  9. 1 2 3 Mardis, E.; Dhillon, P. (2014). "Revolutionizing cancer care with next-generation sequencing: an interview with Elaine Mardis". Disease Models & Mechanisms. 7 (3): 313–317. doi:10.1242/dmm.015396. PMC   3944491 . PMID   24609032.
  10. 1 2 3 Arbanas, Caroline (September 10, 2008). "Genome technology wizard". The Source, Washington University in St. Louis . Retrieved May 1, 2019.
  11. ↑ Purddy, Michael C. (October 21, 2004). "Genome center is major contributor to 'finished' human genome sequence". Washington University in St. Louis. Retrieved May 1, 2019.
  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.
  14. ↑ Ellis, Matthew J.; Ding, Li; Shen, Dong; Luo, Jingqin; Suman, Vera J.; Wallis, John W.; Van Tine, Brian A.; Hoog, Jeremy; Goiffon, Reece J.; Goldstein, Theodore C.; Ng, Sam; Lin, Li; Crowder, Robert; Snider, Jacqueline; Ballman, Karla; Weber, Jason; Chen, Ken; Koboldt, Daniel C.; Kandoth, Cyriac; Schierding, William S.; McMichael, Joshua F.; Miller, Christopher A.; Lu, Charles; Harris, Christopher C.; McLellan, Michael D.; Wendl, Michael C.; Deschryver, Katherine; Allred, D. Craig; Esserman, Laura; et al. (2012). "Whole-genome analysis informs breast cancer response to aromatase inhibition". Nature. 486 (7403): 353–60. Bibcode:2012Natur.486..353E. doi:10.1038/nature11143. PMC   3383766 . PMID   22722193.
  15. ↑ Griffith, Obi L.; Spies, Nicholas C.; Anurag, Meenakshi; Griffith, Malachi; Luo, Jingqin; Tu, Dongsheng; Yeo, Belinda; Kunisaki, Jason; Miller, Christopher A.; Krysiak, Kilannin; Hundal, Jasreet; Ainscough, Benjamin J.; Skidmore, Zachary L.; Campbell, Katie; Kumar, Runjun; Fronick, Catrina; Cook, Lisa; Snider, Jacqueline E.; Davies, Sherri; Kavuri, Shyam M.; Chang, Eric C.; Magrini, Vincent; Larson, David E.; Fulton, Robert S.; Liu, Shuzhen; Leung, Samuel; Voduc, David; Bose, Ron; Dowsett, Mitch; et al. (2018). "The prognostic effects of somatic mutations in ER-positive breast cancer". Nature Communications . 9 (1): 3476. Bibcode:2018NatCo...9.3476G. doi:10.1038/s41467-018-05914-x. PMC   6123466 . PMID   30181556.
  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.
  18. ↑ Wagner, Alex H.; Devarakonda, Siddhartha; Skidmore, Zachary L.; Krysiak, Kilannin; Ramu, Avinash; Trani, Lee; Kunisaki, Jason; Masood, Ashiq; Waqar, Saiama N.; Spies, Nicholas C.; Morgensztern, Daniel; Waligorski, Jason; Ponce, Jennifer; Fulton, Robert S.; Maggi, Leonard B.; Weber, Jason D.; Watson, Mark A.; o'Conor, Christopher J.; Ritter, Jon H.; Olsen, Rachelle R.; Cheng, Haixia; Mukhopadhyay, Anandaroop; Can, Ismail; Cessna, Melissa H.; Oliver, Trudy G.; Mardis, Elaine R.; Wilson, Richard K.; Griffith, Malachi; Griffith, Obi L.; Govindan, Ramaswamy (2018). "Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer". Nature Communications. 9 (1): 3787. Bibcode:2018NatCo...9.3787W. doi:10.1038/s41467-018-06162-9. PMC   6141466 . PMID   30224629.
  19. ↑ Johanns, Tanner M.; Miller, Christopher A.; Liu, Connor J.; Perrin, Richard J.; Bender, Diane; Kobayashi, Dale K.; Campian, Jian L.; Chicoine, Michael R.; Dacey, Ralph G.; Huang, Jiayi; Fritsch, Edward F.; Gillanders, William E.; Artyomov, Maxim N.; Mardis, Elaine R.; Schreiber, Robert D.; Dunn, Gavin P. (2019). "Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma". Oncoimmunology. 8 (4): e1561106. doi:10.1080/2162402x.2018.1561106. PMC   6422384 . PMID   30906654.
  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 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.
  25. ↑ "Distinguished Alumni". Oklahoma University. Retrieved May 1, 2019.
  26. ↑ "The Morton K. Schwartz Award for Significant Contributions in Cancer Research Diagnostics". AACC. Retrieved May 1, 2019.
  27. ↑ "PMWC Speaker biography: Awards" . Retrieved May 1, 2019.
  28. ↑ "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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