Biomedical Data Science Seminar Series, BRB Gaulton Auditorium

Title: Precision medicine research dimensions made accessible by electronic health records

This week hosted by IBI

Abstract:

Biomedical data science has experienced an explosion of new data over the past decade. Abundant genetic and genomic data are increasingly available in large, diverse data sets due to the maturation of modern molecular technologies. Along with these molecular data, dense, rich phenotypic data are also available on comprehensive clinical data sets from health care provider organizations, clinical trials, population health registries, and epidemiologic studies. The methods and approaches for interrogating these large clinical data sets continue to evolve rapidly, as our understanding of the questions and challenges continues to develop. Through applying bioinformatics, statistics, and machine learning approaches to the rich phenotypic data of the electronic health record (EHR), these data can be mined to create new avenues of research in precision medicine.  In this presentation, I will describe many of these new research dimensions that have been made possible by the accessibility to large electronic health record datasets.

Bio:

Dr. Marylyn D. Ritchie is a Professor (tenured) of Genetics and Director of the Institute for Biomedical Informatics at the University of Pennsylvania School of Medicine.  She is also Associate Director of the Penn Center for Precision Medicine, Director of the Center for Translational Bioinformatics, and Co-Director of the Penn Medicine BioBank.  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 375 publications (H-index 88). 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.” Dr. Ritchie holds a PhD from Vanderbilt University in Statistical Genetics, an M.S. from Vanderbilt University in Applied Statistics, and a B.S. in Biology from the University of Pittsburgh at Johnstown. Dr. Ritchie is also the host of two podcasts: she co-hosts The Biomedical Informatics Roundtable podcast with Dr. Jason Moore and she is the solo host of The CALM Podcast: Combining Academia and Life with Marylyn.