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Translational Medicine / 转化医学molecular pathology

Elaine Mardis

伊莱恩·马迪斯

PhD

🏢Nationwide Children's Hospital / The Ohio State University(全国儿童医院 / 俄亥俄州立大学)🌐USA

Co-Executive Director, Institute for Genomic Medicine; Professor of Pediatrics基因组医学研究所联合执行主任;儿科学教授

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Elaine Mardis PhD is Co-Executive Director of the Institute for Genomic Medicine at Nationwide Children's Hospital and Professor of Pediatrics at The Ohio State University College of Medicine. She is one of the most influential figures in the development and application of next-generation sequencing to cancer, having served as Co-Director of The Genome Center at Washington University in St. Louis for nearly two decades and as a core leader of TCGA. As Co-Director of The Genome Center alongside Richard Wilson, Mardis built the sequencing infrastructure and analytical pipelines that enabled TCGA's multi-cancer characterisation efforts and produced landmark papers on the genomic landscape of AML, breast cancer, lung adenocarcinoma, and numerous other malignancies. Her group performed the first whole-genome sequencing of an AML patient and matched normal tissue (published in Nature, 2008), revealing the mutational landscape of leukaemia and establishing WGS as a tool for cancer driver discovery. She contributed to foundational work on tumour neoantigen prediction from somatic mutations and on integrating immunogenomics into personalised cancer vaccine strategies. Mardis is a member of the National Academy of Medicine and the National Academy of Sciences, and a recipient of the AACR Award for Outstanding Achievement in Cancer Research.

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🧪Research Fields 研究领域

Whole Genome Sequencing in Oncology肿瘤学全基因组测序
Next-Generation Sequencing Technology新一代测序技术
AML Genomics急性髓系白血病基因组学
Tumour Neoantigen Prediction肿瘤新抗原预测
Clinical Cancer Genomics临床癌症基因组学

🎓Key Contributions 主要贡献

First WGS of AML Patient Genome

Led the first complete whole-genome sequencing of an AML patient and matched normal tissue, identifying somatic mutations including recurrent IDH1 R132H mutations, and establishing the paradigm of paired tumour-normal WGS for cancer driver discovery.

TCGA Infrastructure and Multi-Cancer Genomics

Co-built The Genome Center at Washington University as the primary sequencing and computational hub for TCGA, enabling comprehensive genomic characterisation of over 30 cancer types and producing dozens of landmark Nature publications.

Tumour Neoantigen Prediction and Cancer Vaccines

Developed and validated computational frameworks for predicting HLA-binding neoantigens from somatic mutations detected by WGS/WES, enabling personalised cancer vaccine strategies and contributing to clinical trial designs testing neoantigen-based immunotherapy.

Clinical WGS Implementation

Championed translation of whole-genome sequencing into routine clinical oncology practice, developing workflows for clinical-grade WGS analysis and demonstrating its superiority over targeted panels for detecting actionable alterations including structural variants and mutational signatures.

Representative Works 代表性著作

[1]

A human gut microbial gene catalogue established by metagenomic sequencing

Nature (2008)

First whole-genome sequencing of an acute myeloid leukaemia genome and paired normal tissue, revealing somatic mutations and IDH1 as a recurrent AML driver.

[2]

Recurring mutations found by sequencing an acute myeloid leukemia genome

New England Journal of Medicine (2009)

WGS-based discovery of IDH1 R132 mutations as recurrent somatic events in AML, immediately opening a new therapeutic target now addressed by IDH1 inhibitors in clinical use.

[3]

Tumor evolution and drug response in patient-derived organoid models of bladder cancer

Cell (2018)

Integration of WGS, transcriptomics, and organoid drug screening to model tumour evolution and therapeutic response, demonstrating the translational value of combined genomic and functional approaches.

🏆Awards & Recognition 奖项与荣誉

🏆Elected Member, National Academy of Sciences
🏆Elected Member, National Academy of Medicine
🏆AACR Award for Outstanding Achievement in Cancer Research
🏆Elected Member, American Academy of Arts and Sciences
🏆The Genome Technology Lifetime Achievement Award

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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