Dr. Marylyn Ritchie is Professor in the Department of Biochemistry and Molecular Biology and Director, Center for Systems Genomics at the Pennsylvania State University. Dr. Ritchie is also Director of the new Biomedical and Translational Informatics at Geisinger Clinic. Dr. Ritchie’s research interests as a statistical geneticist include the development and application of novel statistical and computational methods to identify genetic variants associated with human diseases. Dr. Ritchie’s lab places a special emphasis on the development of methods to detect gene-gene interactions, gene-environment interactions, and network/pathway effects associated with disease. Dr. Ritchie has extensive experience in Big Data science and the use of electronic health records in genomic research. Dr. Ritchie has been the electronic MEdical Records & GEnomics (eMERGE) Coordinating Center genomics lead for the past eight years. Dr. Ritchie’s other accomplishments include being named Genome Technology’s “Rising Young Investigator” (2006), a Sloan Research Fellow (2010), and a Kavli Frontiers in Sciences fellow by the National Academy of Science (2011-2014). Dr. Ritchie was most recently named Thomas Reuters Most Highly Cited Researchers in 2014.
Recent Publications
- Rajagopalan, A, Nguyen, TA, Guare, LA, Rico, ALG, Venkatesh, R, Caruth, L, Genetics Center, R, Medicine BioBank, P, Verma, A, Ritchie, MD et al.. DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs. Pac Symp Biocomput 2026; 31 : 830-848. PubMed PMID:41758188 .
- Orlenko, A, Li, B, Khanjani, N, Venkatesan, M, Shen, L, Ritchie, MD, Wang, ZP, Obafemi-Ajayi, T, Moore, JH. A random-walk-based learning framework to uncover novel gene candidates for Alzheimer's disease therapy. Pac Symp Biocomput 2026; 31 : 815-829. PubMed PMID:41758187 .
- Cardone, KM, Kim, D, Ritchie, MD. Integrating Polygenic Scores with Clinical, Lifestyle, and Social Risk Factors to Improve Heart Failure Risk Prediction. Pac Symp Biocomput 2026; 31 : 629-643. PubMed PMID:41758174 .
- Venkatesh, R, Cherlin, T, BioBank, PM, Ritchie, MD, Guerraty, MA, Verma, SS. Integrating Imaging-Derived Clinical Endotypes with Plasma Proteomics and External Polygenic Risk Scores Enhances Coronary Microvascular Disease Risk Prediction. Pac Symp Biocomput 2026; 31 : 612-628. PubMed PMID:41758173 .
- Wen, Z, Hou, B, He, W, Yang, S, Moore, JH, Saykin, AJ, Huang, H, Thompson, PM, Ritchie, MD, Davatzikos, C et al.. Multi-Modal Deep Clustering Survival Machines for Alzheimer's Disease Subtype Discovery. IEEE Int Conf Comput Vis Workshops 2025; 2025 : 2285-2293. PubMed PMID:41743930 PubMed Central PMC12931817.
- Tsao, NL, Abramowitz, SA, Shakt, GE, Judy, R, Hilliard, AT, Damrauer, SM, Assimes, TL, Clarke, SL, Tcheandjieu, C, Levin, MG et al.. Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes. Circ Genom Precis Med 2026; : e005266. PubMed PMID:41717697 .
- Venkatesh, R, Keat, K, Salvatore, M, Cindi, Z, Hall, MA, Ritchie, MD. Importance of genetic ancestry in pharmacogenomics for precision medicine. Pharmacogenomics 2025; 26 (17-18): 747-762. PubMed PMID:41652975 PubMed Central PMC12915776.
- Barekat, K, Ghosh, S, Herrmann, C, Keat, K, Assenmacher, CA, Tanes, C, Wilson, N, Lordan, R, Mrčela, A, Rauova, L et al.. Concomitant COX-1 and COX-2 suppression is not sufficient to induce enteropathy associated with chronic NSAID use. J Clin Invest 2026; : . PubMed PMID:41591833 .
- Shang, T, Yang, S, Zhai, T, He, W, Mamourian, E, Zhang, J, Hou, B, Lee, J, Duong-Tran, D, Moore, JH et al.. A novel computational analysis integrating social determinants information from EHR and literature with Alzheimer's disease biological knowledge through large language models and knowledge graphs. Innov Aging 2025; 9 (Suppl 1): S2-S13. PubMed PMID:41458885 PubMed Central PMC12742847.
- Fan, Y, Chen, J, Fan, Z, Chirinos, J, Stein, JL, Sullivan, PF, Wang, R, Nadig, A, Zhang, DY, Huang, S et al.. Mapping rare protein-coding variants on multi-organ imaging traits. Nat Commun 2025; 17 (1): 739. PubMed PMID:41436735 PubMed Central PMC12820384.
