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 The Merrick Award for Outstanding Research
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.
Adler AJ, Wiley GB, Gaffney PM. Infinium Assay for Large-scale SNP Genotyping Applications. J Vis Exp 2013. [Abstract] EPub
Kim-Howard X, Sun C, Molineros JE, Maiti AK, Chandru H, Adler A, Wiley GB, Kaufman KM, Kottyan L, Guthridge JM, Rasmussen A, Kelly J, Sanchez E, Raj P, Li QZ, Bang SY, Lee HS, Kim TH, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Han BG, Olsen NJ, Karp DR, Moser K, Pons-Estel BA, Wakeland EK, James JA, Harley JB, Bae SC, Gaffney PM, Alarcon-Riquelme M, on behalf of GENLES, Looger LL, Nath SK. Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. Hum Mol Genet 2013. [Abstract] EPub
* Sakurai D, Zhao J, Deng Y, Kelly JA, Brown EE, Harley JB, Bae SC, Alarcón-Riquelme ME, on behalf of the BIOLUPUS and GENLES networks, Edberg JC, Kimberly RP, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcon GS, Kaufman KM, Vyse TJ, Jacob CO, Gaffney PM, Sivils KM, James JA, Kamen DL, Gilkeson GS, Niewold TB, Merrill JT, Scofield RH, Criswell LA, Stevens AM, Boackle SA, Kim JH, Choi J, Pons-Estel BA, on behalf of the Argentine Collaborative Group, Freedman BI, Anaya JM, Martin J, Yu CY, Chang DM, Song YW, Langefeld CD, Chen W, Grossman JM, Cantor RM, Hahn BH, Tsao BP. Preferential Binding to Elk-1 by SLE-Associated Risk Allele Upregulates Expression. PLoS Genet 9:e1003870, 2013. [Abstract]
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Ronnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvanen AC, Bohjanen PR, Daly MJ, Behrens TW, Altshuler D. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 104:6758-6763, 2007. [Abstract]
Patel KJ, Pambuccian SE, Ondrey FG, Adams GL, Gaffney PM. Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. Oral Oncol 42:994-1004, 2006. [Abstract]
Ginos MA, Page GP, Michalowicz BS, Patel KJ, Volker SE, Pambuccian SE, Ondrey FG, Adams GL, Gaffney PM. Identification of a gene expression signature associated with recurrent disease in squamous cell carcinoma of the head and neck. Cancer Res 64:55-63, 2004. [Abstract]
Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A 100:2610-2615, 2003. [Abstract]
Gaffney PM, Ortmann WA, Selby SA, Shark KB, Ockenden TC, Rohlf KE, Walgrave NL, Boyum WP, Malmgren ML, Miller ME, Kearns GM, Messner RP, King RA, Rich SS, Behrens TW. Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet 66:547-556, 2000. [Abstract]
Gaffney PM, Kearns GM, Shark KB, Ortmann WA, Selby SA, Malmgren ML, Rohlf KE, Ockenden TC, Messner RP, King RA, Rich SS, Behrens TW. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A 95:14875-14879, 1998. [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