Genes determine your height, hair color and even, in some cases, whether or not you will get certain diseases. Much of what scientists know about human disease today has been learned from the study of genetics, and in my lab we focus on how genes can trigger the onset of disease, make disease worse or even why they express themselves differently in one person versus another. In particular, we study the roles genes play in auto-immune and auto-inflammatory diseases.
While I began my career in the field of cancer genetics, I never lost ties to the work I began as a graduate student in genetics of the immune system. I now direct the Sarcoidosis Research Unit and lead projects focused on understanding the genetic and environmental risk factors of sarcoidosis. This “medical mystery” occurs when small nodules called granulomas form in and around organs. Our goal is to better understand the risk factors of sarcoidosis so that we can better diagnose, treat and even prevent disease.
My laboratory is focused on the identification of genes predisposing to complex diseases, particularly sarcoidosis, an inflammatory disorder that can affect any organ in the body. It is characterized by growths called granulomas, much like those found in people with Tuberculosis. Patients can have granulomas in the liver, lymph glands, bone marrow, even the brain, but are most frequently diagnosed because of granulomas in the lungs. The disease can resolve on its own or can be chronic, leading to severe health problems. We know that sarcoidosis can run in families, but we also know that certain environmental exposures increase the risk of disease in certain people with a particular genetic background. For example, sarcoidosis is more prevalent in women and, in the United States, African Americans are both more commonly and more severely affected than Caucasians.
It is the goal of my laboratory to not only find the genes that make someone susceptible to disease but also to understand why the disease is worse in some patients compared to others. Specifically, our studies have led the way in the genetics of sarcoidosis for over a decade and now focus on understanding how genes cause particular cells within the immune system to respond in such a way to make granulomas form.
We are so thankful to the patients that participate in our research clinics and share not only their time and participate in our studies, but also share their amazing stories with us!
B.A. (honors), Oklahoma City University, 1995
M.S., University of Oklahoma Health Sciences Center, 2000
Ph.D., Case Western Reserve University, Cleveland, Ohio, 2004
Honors and Awards
Outstanding Science Student Award, Oklahoma City University, 1995
Rhodes Scholar Semifinalist, Oxford University, 1995
2nd Place, College of Public Health Graduate Student Research Competition, University of Oklahoma Health Sciences Center, 1999
Graduate Student Association Award, University of Oklahoma Health Sciences Center, 2000
NHLBI trainee fellow, Case Western Reserve University Division of Genetic and Molecular Epidemiology, 2000-2002
Nominee for C.W. Cotterman Award, American Society of Human Genetics, 2001
Student of the Year Award, Case Western Reserve University Division of Genetic and Molecular Epidemiology, 2002-2003
J. Donald and Patricia Capra Award for Scientific Achievement, 2012
Editor, BMC Genetics, Genetic Analysis Workshop, 2004-2005, 2007
Reviewer, Human Heredity, 2005-present
Reviewer, Genes and Immunity, 2005-present
Reviewer, BioTechniques, 2005-present
Reviewer, The Journal of Clinical Endocrinology & Metabolism, 2006-present
Editorial Board Member, Open Genetics Journal, 2007-present
Reviewer, Annals of Human Genetics, 2007-present
Reviewer, Biometrical Journal, 2007-present
Rare Disease Consortia for Neurosarcoidosis
Trans-omics for Precision Medicine (TOPMed) Consortia, NHLBI, NIH
American Association of Sarcoidosis and Other Granulomatous Diseases - Executive Committee
American College of Rheumatology
American Thoracic Society
American Society of Human Genetics
International Genetic Epidemiology Society
Joined OMRF scientific staff in 2008
Joachims ML, Khatri B, Li C, Tessneer KL, Ice JA, Stolarczyk AM, Means N, Grundahl KM, Glenn SB, Kelly JA, Lewis DM, Radfar L, Stone DU, Guthridge JM, James JA, Scofield RH, Wiley GB, Wren JD, Gaffney PM, Montgomery CG, Sivils KL, Rasmussen A, Farris AD, Adrianto I, Lessard CJ. Dysregulated long non-coding RNA in Sjögren's disease impacts both interferon and adaptive immune responses. RMD Open 8, 2022 November, PMID: 36456101, PMCID: PMC9717416
Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de Las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373:1030-1035, 2021 August, PMID: 34385354, PMCID: PMC9217108
Bagavant H, Araszkiewicz AM, Rasmussen A, Pezant N, Montgomery C, Scofield RH, Farris D, Lessard CJ, Deshmukh US. Anti-vimentin antibodies are associated with higher severity of Sjögren's disease. Clin Immunol 247:109243, 1970 January, PMID: 36702181
Garman L, Pelikan RC, Rasmussen A, Lareau CA, Savoy KA, Deshmukh US, Bagavant H, Levin AM, Daouk S, Drake WP, Montgomery CG. Single cell transcriptomics implicate novel T cell and monocyte immune dysregulation in sarcoidosis. Frontiers in Immunology. December 8 2020; 11:567342. doi: 10.3389/fimmu.2020.567342. eCollection 2020. PMID 33363531. PMCID: PMC7753017
Taliun G, …Montgmery C, …, Abecasis G. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. February 11, 2021;590(7845):290-299. Doi: 10.1038/s41586-021-03205-y. Epub 2021 Feb 10. PMID: 33568819, PMCID: PMC7875770
Pelikan R, Kelly JA, Fu Y, Laraeu CA, Tessneer KL, Wiley GB, Wiley M, Glenn SB, HarleyJB, Guthridge JM, James JA, Aryee MJ, Montgomery CG, Gaffney PM. Enhancer histone-QTLs are enriched on autoimmune disease risk haplotypes and influence gene expression variability within chromatin networks. Nature Communications, 2018. PMID: 30046115 PMCID: 6060153
Lareau CA, DeWeese CF, Adrianto I, Lessard CJ, Gaffney PM, Iannuzzi MC, Rybicki BA, Levin AM, Montgomery CG. Polygenic Risk Assessment Reveals Pleiotropy between Sarcoidosis and Inflammatory Disorders in the Context of Genetic ancestry. Genes Immun. 2017 Mar;18(2):88-94. PMID: 28275240, PMCID: PMC5407914
Bello GA, Adrianto I, Dumancas GD, Levin AM, Innauzzi MC, Rybicki BA, Montgomery C. Role of NOD2 pathway genes in sarcoidosis cases with clinical characteristics of Blau Syndrome. Am J of Resp Crit Care Med. 2015 Nov 1;192(9):1133-5. PMID: 26517420 PMCID: 5447311
Adrianto I, Lin CP, Hale JJ, Levin AM, Datta I, Parker R, Adler A, Kelly JA, Kaufman KM, Lessard CJ, Moser KL, Kimberly RP, Harley JB, Iannuzzi MC, Rybicki BA, Montgomery CG†. Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. PLoS One. 2012;7(8):e43907. PMID: 22952805 PMCID: 3428296
Astrid Rasmussen, Ph.D.
Research Associate Member
Chuang Li, Ph.D.
Senior Data Analyst
Abigail "Abby" Hardin
Lead Clinical Research Nurse
Research Data Coordinator
Administrative Assistant III
News from the Montgomery lab
OMRF’s education programs enjoyed a record summer in 2022. For most students, summer means late nights, lake days and snooze buttons. But for those who spend the dog days in OMRF’s labs, it’s mice, pipettes and data analysis. Despite the obvious appeal of a lazy few months between semesters, in recent years, OMRF has seen […]
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