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
- Gunter, HM, Choshi, P, Chimbetete, T, Pedretti, S, Lehloenya, RJ, Sinxadi, PZ, Ritchie, MD, Phillips, EJ, Haas, DW, Peter, JG et al.. Genetic polymorphisms and adverse reactions to antituberculosis therapy. Pharmacogenomics 2025; 26 (5-6): 207-221. PubMed PMID:40538374 .
- Venkatesh, R, Cardone, KM, Bradford, Y, Moore, AK, Kumar, R, Moore, JH, Shen, L, Kim, D, Ritchie, MD. Integrative multi-omics approaches identify molecular pathways and improve Alzheimer's Disease risk prediction. medRxiv 2025; : . PubMed PMID:40502591 PubMed Central PMC12155013.
- Shang, T, Yang, S, He, W, Zhai, T, Li, D, Hou, B, Chen, T, Moore, JH, Ritchie, MD, Shen, L et al.. Leveraging Social Determinants of Health in Alzheimer's Research Using LLM-Augmented Literature Mining and Knowledge Graphs. AMIA Jt Summits Transl Sci Proc 2025; 2025 : 491-500. PubMed PMID:40502260 PubMed Central PMC12150755.
- Kumar, R, Romano, JD, Ritchie, MD. Network-based analyses of multiomics data in biomedicine. BioData Min 2025; 18 (1): 37. PubMed PMID:40426270 PubMed Central PMC12117783.
- Tong, B, Edwards, T, Yang, S, Hou, B, Tarzanagh, DA, Urbanowicz, RJ, Moore, JH, Ritchie, MD, Davatzikos, C, Shen, L et al.. Ensuring Fairness in Detecting Mild Cognitive Impairment with MRI. AMIA Annu Symp Proc 2024; 2024 : 1119-1128. PubMed PMID:40417489 PubMed Central PMC12099326.
- Lammi, V, Nakanishi, T, Jones, SE, Andrews, SJ, Karjalainen, J, Cortés, B, O'Brien, HE, Ochoa-Guzman, A, Fulton-Howard, BE, Broberg, M et al.. Genome-wide association study of long COVID. Nat Genet 2025; 57 (6): 1402-1417. PubMed PMID:40399555 PubMed Central PMC12165857.
- Junior Trainees Group. The state of play report. Br J Oral Maxillofac Surg 2025; 63 (5): 339-348. PubMed PMID:40379567 .
- Lee, DSM, Cardone, KM, Zhang, DY, Tsao, NL, Abramowitz, S, Sharma, P, DePaolo, JS, Conery, M, Aragam, KG, Biddinger, K et al.. Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum. Nat Genet 2025; 57 (4): 829-838. PubMed PMID:40195560 PubMed Central PMC12049093.
- Safonov, A, Nomakuchi, TT, Chao, E, Horton, C, Dolinsky, JS, Yussuf, A, Richardson, M, Speare, V, Li, S, Bogus, ZC et al.. A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations. Nat Commun 2025; 16 (1): 3121. PubMed PMID:40169570 PubMed Central PMC11962086.
- Yang, G, González, P, Moneró, M, Carrasquillo, K, Renta, JY, Hernandez-Suarez, DF, Botton, MR, Melin, K, Scott, SA, Ruaño, G et al.. Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics. NPJ Genom Med 2025; 10 (1): 20. PubMed PMID:40055373 PubMed Central PMC11889249.
