Biomedical and Translational Informatics Laboratory

 Marylyn D. Ritchie, PhD, FACMI

 Principal Investigator

  Director, Center for Translational Bioinformatics, Institute for Biomedical Informatics
  Director, Institute for Biomedical Informatics
  Professor with tenure, Department of Genetics
  Edward Rose, M.D. and Elizabeth Kirk Rose, M.D. Professor
  Director, Division of Informatics, Department of Biostatistics, Epidemiology, and Informatics
    University of Pennsylvania, Perelman School of Medicine
  Vice President, Research Informatics, University of Pennsylvania Health System
 
  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

Marylyn D. Ritchie, PhD is a Professor with tenure in the Department of Genetics, Director of the Center for Translational Bioinformatics, Director for the Institute for Biomedical Informatics at the University of Pennsylvania School of Medicine. Dr. Ritchie is also Director for the Division of Informatics, Department of Biostatistics, Epidemiology, and Informatics at the University of Pennsylvania School of Medicine and Vice President for Research Informatics at the University of Pennsylvania Health System. Dr. Ritchie is a translational bioinformatics scientist, biomedical informatician, and computational human geneticist with a focus on developing novel approaches for understanding the relationship between our genome and human phenotypes. She has expertise in developing novel bioinformatics tools for complex analysis of big data in genetics, genomics, and clinical databases, in particular in the area of Pharmacogenomics. Some of her methods include Multifactor Dimensionality Reduction (MDR), the Analysis Tool for Heritable and Environmental Network Associations (ATHENA), and the Biosoftware suite for annotating/ filtering variants and genomic regions as well as building models of biological relevance for gene-gene interactions and rare-variant burden/dispersion tests. Dr. Ritchie has over 15 years of experience in the analysis of complex data and has authored over 300 publications.  Dr. Ritchie has received several awards and honors including selection as a Genome Technology Rising Young Investigator in 2006, an Alfred P. Sloan Research Fellow in 2010, a KAVLI Frontiers of Science fellow by the National Academy of Science from 2011-2014, and she was named one of the most highly cited researchers in her field by Thomas Reuters in 2014. Dr. Ritchie has extensive experience in all aspects of genetic epidemiology and translational bioinformatics as it relates to human genomics. She also has extensive expertise in dealing with big data and complex analysis including GWAS, next-generation sequencing, data integration of meta-dimensional omics data, Phenome-wide Association Studies (PheWAS), and development of data visualization approaches.

Education

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