The Markle Lab is part of the Department of Pathology, Microbiology and Immunology at Vanderbilt University Medical Center.

The Markle Lab is interested in understanding genetic determinants of immunity. Our studies are patient-based, and we focus on children with severe immune-mediated diseases. Our lab uses human whole exome and whole genome sequencing to discover monogenic (e.g. single gene) inborn errors of immunity in children with rare infectious, autoimmune, or auto-inflammatory diseases. We use a customized bioinformatic pipeline to sift through large genetic datasets to pinpoint candidate gene variants. Then, we study the impact of these variants on the expression and function of the encoded proteins. We aim to thoroughly characterize the functional impact of each variant at the molecular and cellular levels, and to this end we use both classical and cutting-edge techniques in molecular biology, protein biochemistry, in vitro cell culture approaches, and mass cytometry using patient leukocytes. Current projects include: inflammasome-activating mutations, mutations affecting cytokine receptors, novel candidate genes for intestinal inflammation, inflammatory skin diseases, and characterizing the microbiota of patients with monogenic immune diseases. Our group uses both ‘dry-lab’ (computational) and wide variety of ‘wet-lab’ approaches and our interests lie at the crossroads of human genetics, human immunology, and host-microbe interactions. Please direct inquiries about collaborations to janet.markle@vumc.org.

Our lab is recruiting PhD students from the Vanderbilt University Interdisciplinary Graduate Program in Biological and Biomedical Sciences and the Quantitative and Chemical Biology graduate program. Graduate students in our lab may choose from several excellent graduate training programs offered at Vanderbilt, including Molecular Pathology and Immunology, Microbe-Host Interactions, or Human Genetics.

Dr. Markle is on the Program Committee of the Vanderbilt Center for Immunobiology and is an Associate Director of the Program in Computational Microbiology and Immunology. The Markle lab actively participates in collaborations within the Human Immunology Discovery Initiative, a trans-institutional program that brings together physicians and basic scientists to better understand immunological diseases, including inborn errors of immunity. Our lab is also affiliated with the VI4 and the Vanderbilt Genetics Institute.