Biomedical and Translational Informatics Laboratory

 Marylyn D. Ritchie, PhD, FACMI

 Principal Investigator

  Vice Dean of Artificial Intelligence and Computing in the Perelman School of Medicine
  Director, Institute for Biomedical Informatics
  Director, Division of Informatics, DBEI
  Vice President of Research Informatics, UPHS
  Co-Director, Penn Medicine BioBank (PMBB)
  Edward Rose, M.D. and Elizabeth Kirk Rose, M.D. Professor of Genetics
  A301 Richards Building
  3700 Hamilton Walk, Philadelphia, PA 19104
  This email address is being protected from spambots. You need JavaScript enabled to view it.            Curriculum Vitae            Google Scholar

Dr. Marylyn D. Ritchie is the Edward Rose, MD and Elizabeth Kirk Rose, MD Professor of Genetics and Director of the Institute for Biomedical Informatics at the University of Pennsylvania School of Medicine. She is also Co-Director of the Penn Medicine BioBank and Vice President of Research Informatics in the University of Pennsylvania Health System. Dr. Ritchie is an expert in translational bioinformatics, with a focus on developing, applying, and disseminating algorithms, methods, and tools integrating electronic health records (EHR) with genomics. Dr. Ritchie has over 20 years of experience in translational bioinformatics and has authored over 400 publications. Dr. Ritchie was appointed as a Fellow of the American College of Medical Informatics (ACMI) in 2020. Dr. Ritchie was elected as a member of the National Academy of Medicine in 2021; she is being recognized “for paradigm-changing research demonstrating the utility of electronic health records for identifying clinical diseases or phenotypes that can be integrated with genomic data from biobanks for genomic medicine discovery and implementation science.”

The mission of Dr. Ritchie’s lab is to improve our understanding of the underlying architecture of common, complex diseases. We develop and apply a breadth of translational bioinformatics approaches exploring the genome, the phenome, and the exposome. The approaches we take involve the development and application of new statistical, computational, machine learning, and AI methods with a focus on embracing complexity to uncover relationships between multi-omics data, clinical data (mostly from electronic health records), environmental exposures, and social determinants of health. These meta-dimensional approaches hold the promise of providing a more comprehensive view of genetic, genomic, and phenotypic information.

Dr. Ritchie is also interested in implementation of precision medicine into routine clinical care. Throughout her career, she has participated in research programs focused on the implementation of both pharmacogenomics and genomic medicine. Recent efforts are enriched in the concept of the Learning Health System, whereby they leverage the electronic health record linked biobank as a living laboratory to conduct research and then implement the findings to improve clinical care.


1999, BS               University of Pittsburgh at Johnstown (Biology)
2002, MS               Vanderbilt University (Applied Statistics)
2004, PhD             Vanderbilt University (Statistical Genetics)

Honors and Awards

1999                      Graduated Summa Cum Laude, University of Pittsburgh, Johnstown
2000- 2002             NIH Breast Cancer Research Training Grant
2001                      Vanderbilt University, Charles R. Park Student Travel Award
2002- 2003             NLM Bioinformatics Training Grant
2002                      Vanderbilt University Graduate School Travel Grant
2003                      Vanderbilt University Dissertation Enhancement Grant
2003                      Vanderbilt University Graduate School Travel Grant
2003                      Vanderbilt University, Charles R. Park Student Travel Award
2004                      Best Paper Award, Genetic and Evolutionary Computation Conference
2006                      Genome Technology, Rising Young Investigator Award
2010                      Sloan Research Fellow
2011-2014              KAVLI Frontiers in Science Fellow, National Academy of Science
2014                      Member, Thomas Reuters, Most Highly Cited Researchers
2015                      Paul Berg Professor of Biochemistry and Molecular Biology, Penn State University
2016                      E. Allen Deaver, High Potential Leadership Fellow, Geisinger Health System
2017                      First Place, AMIA “Why Informatics” Video Contest
2020                      Group on Information Resources (GIR) Excellence Award, American Association of Medical Colleges (AAMC)
                               – for our team’s PennChart Genomics Project
2020                      Elected as a fellow in the American College of Medical Informatics (ACMI)
2021                      Executive Leadership in Academic Medicine (ELAM) fellow
2021                      Elected into the National Academy of Medicine (NAM)
2022                      Edward Rose, M.D. and Elizabeth Kirk Rose, M.D. Professor, University of Pennsylvania, Perelman School of Medicine

Memberships in Professional Societies

American Association for the Advancement of Science (AAAS)
American Society of Human Genetics (ASHG)
International Society for Computational Biology (ISCB)
American Medical Informatics Association (AMIA)
American College of Medical Informatics (ACMI)
National Academy of Medicine (NAM)

Major Research Interests

Computational Genomics            Genetic Epidemiology
Translational Bioinformatics        Statistical Genetics
Epistasis                                      Systems Genomics
Pharmacogenomics                    Computational Biology
Big Data                                      Biomedical Informatics
Evolutionary Computation           Cardiovascular Disease