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
1995 Outstanding Science Student Award, Oklahoma City University
1995 Rhodes Scholar Semifinalist, Oxford University
1999 2nd Place, College of Public Health Graduate Student Research Competition, University of Oklahoma Health Sciences Center
2000 Graduate Student Association Award, University of Oklahoma Health Sciences Center
2000-2002 NHLBI trainee fellow, Case Western Reserve University Division of Genetic and Molecular Epidemiology
2001 Nominee for C.W. Cotterman Award, American Society of Human Genetics
2002-2003 Student of the Year Award, Case Western Reserve University Division of Genetic and Molecular Epidemiology
2012 J. Donald and Patricia Capra Award for Scientific Achievement
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 (AASOG) - Executive Committee
American College of Rheumatology
American Thoracic Society
American Society of Human Genetics
International Genetic Epidemiology Society
Joined OMRF Scientific Staff in 2008.
Bagavant H, Cizio K, Araszkiewicz AM, Papinska JA, Garman L, Li C, Pezant N, Drake WP, Montgomery CG, Deshmukh US. Systemic immune response to vimentin and granuloma formation in a model of pulmonary sarcoidosis. J Transl Autoimmun 5:100153, 2022 April, PMID: 35434591, PMCID: PMC9006845
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de Las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST, NHLBI CARE Network., Mak AC, Loos RJ, Kumar R, Kooperberg C, Konkle BA, Kelly S, Kardia SL, Kaplan R, He J, Gui H, Gilliland FD, Gelb BD, Fornage M, Ellinor PT, de Andrade M, Correa A, Chen YI, Boerwinkle E, Barnes KC, Ashley-Koch AE, Arnett DK, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium., TOPMed Hematology and Hemostasis Working Group., TOPMed Structural Variation Working Group., Laurie CC, Abecasis G, Nickerson DA, Wilson JG, Rich SS, Levy D, Ruczinski I, Aviv A, Blackwell TW, Thornton T, O'Connell J, Cox NJ, Perry JA, Armanios M, Battle A, Pankratz N, Reiner AP, Mathias RA. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genom 2, 2022 January, PMID: 35530816, PMCID: PMC9075703
Kwong AM, Blackwell TW, LeFaive J, de Andrade M, Barnard J, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Cade BE, Chasman DI, Chen H, Conomos MP, Cupples LA, Ellinor PT, Eng C, Gao Y, Guo X, Ryan Irvin M, Kelly TN, Kim W, Kooperberg C, Lubitz SA, Mak ACY, Manichaikul AW, Mathias RA, Montasser ME, Montgomery CG, Musani S, Palmer ND, Peloso GM, Qiao D, Reiner AP, Roden DM, Shoemaker MB, Smith JA, Smith NL, Lasky Su J, Tiwari HK, Weeks DE, Weiss ST, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Analysis Working Group., Scott LJ, Smith AV, Abecasis GR, Boehnke M, Min Kang H. Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries. Genetics, 2021 March, PMID: 33720349, PMCID: PMC8128395
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.
Bryan Dawkins, Ph.D.
Post-Doctoral - Paid Fellow
Senior Data Analyst
Abigail "Abby" Hardin
Lead Clinical Research Nurse
Research Data Coordinator
Administrative Assistant III
News from the Montgomery lab
The National Institutes of Health has awarded 17 grants worth a total of $14.7 million to OMRF. The grants are part of the $10 billion in economic stimulus funds that will be provided for medical research through the American Recovery and Reinvestment Act of 2009. The grants will fund OMRF research on a wide array […]
The National Institutes of Health has awarded two grants worth a total of $26.3 million to OMRF for research into anthrax and to help train new scientists. Each grant will allow scientists to continue research started in 2004 and 2005 and keep them working through 2014 on several interconnected projects. In the first project, a $14.5 […]
A new wave of researchers has joined the Oklahoma Medical Research Foundation’s scientific staff as part of the foundation’s expansion. OMRF has added seven new scientists to its staff. In addition, two research assistants have been promoted to faculty-level positions. The new researchers have come to OMRF from a variety of institutions across the U.S. […]