Patrick M. Gaffney, M.D.
J.G. Puterbaugh Chair in Medical Research
When the Human Genome Project was completed and published in 2003, it was hailed as a “detailed blueprint for building every human cell.” Scientists finally had a sort of operating manual for the more than 20,000 genes that determine every characteristic present in a human being.
Today, we use that genetic information to help answer questions about systemic lupus erythematosus. Lupus is an autoimmune disease in which the immune system attacks the body’s own tissues, leading to inflammation, organ failure and, in some cases, death. By comparing the genetic information of normal individuals with that of people with lupus, we are able to pinpoint specific differences that might account for the onset of disease.
Because lupus often occurs in families, genetic data gathered from them may help us create tools for predicting when it will strike and finding ways to stop it. In my lab, we hope to develop better treatments for lupus, as well as ways to monitor those already afflicted with the disease.
B.S., Saint John’s University, Collegeville, MN, 1983
M.D., University of Minnesota, Minneapolis, MN, 1991
Honors and Awards
1996 Midwest Trainee Investigator Award, American Federation for Clinical Research
1997 Molecular Genetics Fellowship, University of Minnesota
1998 Participant, Genetic-Epidemiological Studies of Complex Diseases, Cold Spring Harbor Laboratory
1999 NIH NIAMS Clinical Investigator Award
2000 Young Investigator Award, Department of Medicine, University of Minnesota
2005 Cancer and Leukemia Group B Junior Faculty Research Award
2006 Faculty Career Development Award, Department of Medicine, University of Minnesota
2008, 2011 The Merrick Award for Outstanding Research, Merrick Foundation, Oklahoma City, OK
2013 Edward L. and Thelma Gaylord Prize for Scientific Achievement, Oklahoma City, OK
2013 J.G. Puterbaugh Chair in Medical Research, Oklahoma Medical Research Foundation, Oklahoma City, OK
Member, Scientific Advisory Committee, SLE Biomarkers Working Group (2004 to present)
Member, Scientific Advisory Committee, DeCide Clinical Trial, University of Chicago Medical School (2005 to present
Member, SLEGEN Consortium Data Analysis Committee (2006 to present)
American Society of Hematology
American Society of Clinical Oncology
American Society of Human Genetics
American Association for Cancer Research
American College of Rheumatology
Joined OMRF Scientific Staff in 2007.
Improving our understanding of the genetic basis of systemic lupus erythematosus (SLE) is a major focus of the work in our laboratory. SLE is a prototypic autoimmune disease characterized by the production of antibodies that react with a wide variety of tissues resulting in systemic inflammation and organ failure.
From over a decade of work on the genetics of SLE, it is now clear that the risk of developing SLE is strongly influenced by genetic polymorphisms inherited within families. We use rapid high-capacity genotyping technology to systematically evaluate genetic polymorphisms associated with human SLE. With the completion of our genome-wide association study many new genetic targets will be identified and will require further replication. We are engaged in all phases of genetic evaluation from discovery to validation to functional characterization in model systems. The overall objective of these studies is to develop a comprehensive view of the genetic landscape of SLE and then use that information to develop new and improved treatments, predictive tools and monitoring programs for patients with SLE.
Vaughn SE, Foley C, Lu X, Patel ZH, Zoller EE, Magnusen AF, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath S, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcon GS, Reveille JD, Anaya JM, James JA, Moser KL, Criswell LA, Vila LM, Alarcon-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Binjoo Y, Choi J, Bae SC, Boackle SA, Vyse TJ, Guthridge JM, Namjou B, Gaffney PM, Langefeld CD, Kaufman KM, Kelly JA, Harley IT, Harley JB, Kottyan LC. Lupus risk variants in the PXK locus alter B-cell receptor internalization. Front Genet 5:450, 2014. [Abstract]
* Martins M, Williams AH, Comeau M, Marion M, Ziegler JT, Freedman BI, Merrill JT, Glenn SB, Kelly JA, Sivils KM, James JA, Guthridge JM, Alarcon-Riquelme ME, Bae S, Kim J, Kim D, Anaya J, Boackle SA, Criswell LA, Kimberly RP, Alarcon GS, Brown EE, Vila LM, Petri MA, Ramsey-Goldman R, Niewold TB, Tsao BP, Gilkeson GS, Kamen DL, Jacob CO, Stevens AM, Gaffney PM, Harley JB, Langefeld CD, Fesel C. Genetic association of CD247 (CD3zeta) with SLE in a large-scale multiethnic study. Genes Immun 2015. [Abstract] EPub
Namjou B, Ni Y, Harley IT, Chepelev I, Cobb B, Kottyan LC, Gaffney PM, Guthridge JM, Kaufman K, Harley JB. The effect of inversion at 8p23 on BLK association with lupus in caucasian population. PLoS One 9:e115614, 2014. [Abstract]
* Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Simon Bowman for UK primary Sjogren's syndrome registry, Rischmueller M, Lester S, Brun JG, Goransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnstrom M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Wan-Fai Ng for UK primary Sjogren's syndrome registry, Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcon GS, Reveille JD, Vila LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM. The IRF5-TNPO3 association with systemic lupus erythematosus (SLE) has two components that other autoimmune disorders variably share. Hum Mol Genet 24:582-596, 2014. [Abstract]
*Wang S, Adrianto I, Wiley GB, Lessard CJ, Kelly JA, Adler AJ, Glenn SB, Williams AH, Ziegler JT, Comeau ME, Marion MC, Wakeland BE, Liang C, Kaufman KM, Guthridge JM, Alarcón-Riquelme ME, on behalf of the BIOLUPUS and GENLES Networks, Alarcon GS, Anaya JM, Bae SC, Kim JH, Joo YB, Boackle SA, Brown EE, Petri MA, Ramsey-Goldman R, Reveille JD, Vila LM, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martin J, Merrill JT, Niewold TB, Pons-Estel BA, Scofield RH, Stevens AM, Tsao BP, Vyse TJ, Langefeld CD, Harley JB, Wakeland EK, Moser KL, Montgomery CG, Gaffney PM. A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus. Genes Immun 13:380-387, 2012. [Abstract]
Manjarrez-Orduño N, Marasco E, Chung SA, Katz MS, Kiridly JF, Simpfendorfer KR, Freudenberg J, Ballard DH, Nashi E, Hopkins TJ, Cunninghame Graham DS, Lee AT, Coenen MJ, Franke B, Swinkels DW, Graham RR, Kimberly RP, Gaffney PM, Vyse TJ, Behrens TW, Criswell LA, Diamond B, Gregersen PK. CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. Nat Genet 44:1227-1230, 2012.[Abstract]
* Manku H, Langefeld CD, Guerra SG, Malik TH, Alarcon-Riquelme M, Anaya JM, Bae SC, Boackle SA, Brown EE, Criswell LA, Freedman BI, Gaffney PM, Gregersen PA, Guthridge JM, Han SH, Harley JB, Jacob CO, James JA, Kamen DL, Kaufman KM, Kelly JA, Martin J, Merrill JT, Moser KL, Niewold TB, Park SY, Pons-Estel BA, Sawalha AH, Scofield RH, Shen N, Stevens AM, Sun C, Gilkeson GS, Edberg JC, Kimberly RP, Nath SK, Tsao BP, Vyse TJ. Trans-Ancestral Studies Fine Map the SLE-Susceptibility Locus TNFSF4. PLoS Genet 9:e1003554, 2013. [Abstract]
* Namjou B, Kim-Howard X, Sun C, Adler A, Chung SA, Kaufman KM, Kelly JA, Glenn SB, Guthridge JM, Scofield RH, Kimberly RP, Brown EE, Alarcon GS, Edberg JC, Kim JH, Choi J, Ramsey-Goldman R, Petri MA, Reveille JD, Vila LM, Boackle SA, Freedman BI, Tsao BP, Langefeld CD, Vyse TJ, Jacob CO, Pons-Estel B, Argentine Collaborative Group, Niewold TB, Moser Sivils KL, Merrill JT, Anaya JM, Gilkeson GS, Gaffney PM, Bae SC, Alarcon-Riquelme ME, BIOLUPUS and GENLES Networks, Harley JB, Criswell LA, James JA, Nath SK. PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes. PLoS One 8:e69404, 2013. [Abstract]
* Wang S, Wen F, Wiley GB, Kinter MT, Gaffney PM. An Enhancer Element Harboring Variants Associated with Systemic Lupus Erythematosus Engages the TNFAIP3 Promoter to Influence A20 Expression. PLoS Genet 9:e1003750, 2013. [Abstract]
Arthritis & Clinical Immunology Research Program, MS 57
Oklahoma Medical Research Foundation
825 N.E. 13th Street
Oklahoma City, OK 73104
Phone: (405) 271-2572
Fax: (405) 271-3045