Patrick M. Gaffney, M.D.

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.

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.

Education
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

Other Activities
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)

Memberships
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

Recent Publications

Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN. βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 Jun 7;102(6):1158-1168. PMID: 29861105

Kottyan LC, Maddox A, Braxton JR, Stucke EM, Mukkada V, Putnam PE, Abonia JP, Chehade M, Wood RA, Pesek RD, Vickery BP, Furuta GT, Dawson P, Sampson HA, Martin LJ, Kelly JA, Kimberly RP, Sivils K, Gaffney PM, Kaufman K, Harley JB, Rothenberg ME. Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis. Genes Immun. 2018 Jun 8. [Epub ahead of print] PMID: 29904099

Patel Z, Lu X, Miller D, Forney CR, Lee J, Lynch A, Schroeder C, Parks L, Magnusen AF, Chen X, Pujato M, Maddox A, Zoller EE, Namjou B, Brunner HI, Henrickson M, Huggins JL, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Pons-Estel BA, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Martin J, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Petri M, Scofield RH, Kimberly RP, Edberg JC, Ramsey-Goldman R, Bang SY, Lee HS, Bae SC, Boackle SA, Cunninghame Graham D, Vyse TJ, Merrill JT, Niewold TB, Ainsworth HC, Silverman ED, Weisman MH, Wallace DJ, Raj P, Guthridge JM, Gaffney PM, Kelly JA, Alarcón-Riquelme ME, Langefeld CD, Wakeland EK, Kaufman KM, Weirauch MT, Harley JB, Kottyan LC. A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus. Hum Mol Genet. 2018 Apr 18. [Epub ahead of print] PMID: 29912393

Selected Publications

Li H, Reksten TR, Ice JA, K...Gaffney PM, James JA, Turner S, Alevizos I, Anaya JM, Rhodus NL, Segal BM, Montgomery CG, Scofield RH, Kovats S, Mariette X, Rönnblom L, Witte T, Rischmueller M, Wahren-Herlenius M, Omdal R, Jonsson R, Ng WF; for UK Primary Sjögren's Syndrome Registry, Nordmark G, Lessard CJ, Sivils KL.  Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 2017 Jun 22;13(6):e1006820.  PMID: 28640813

Gough AT, Fieraru G, Gaffney P, Butler M, Kincaid RJ, Middleton RG. A novel use of QR code stickers after orthopaedic cast application. Ann R Coll Surg Engl. 2017 Jul;99(6):476-478. PMID: 28660817

Morris DL, Sheng Y, Zhang Y, ..., Gaffney PM, Lau YL, Zhang X, Yang W, Cui Y, Vyse TJ. Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. Nat Genet. 2016 Jul 11. [Abstract]

Young KA, Munroe ME, Guthridge JM, Kamen DL, Niewold TB, Gilkeson GS, Weisman MH, Ishimori ML, Kelly J, Gaffney PM, Sivils KH, Lu R, Wallace DJ, Karp DR, Harley JB, James JA, Norris JM. Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus. Ann Rheum Dis. 2016 Jun 9. pii: annrheumdis-2016-209157.  [Abstract]

Raj P, Rai E, Song R, Khan S, Wakeland BE, Viswanathan K, Arana C, Liang C, Zhang B, Dozmorov I, Carr-Johnson F, Mitrovic M, Wiley GB, Kelly JA, Lauwerys BR, Olsen NJ, Cotsapas C, Garcia CK, Wise CA, Harley JB, Nath SK, James JA, Jacob CO, Tsao BP, Pasare C, Karp DR, Li QZ, Gaffney PM, Wakeland EK. Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity. Elife. 2016 Feb 16;5. pii: e12089. [Abstract]

* Zhao J, Wu H, Langefeld CD, Kaufman KM, Kelly JA, Bae SC, Alarcon GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, James JA, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Petri MA, Song ST, Jeong HJ, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vila LM, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Hahn BH, Grossman JM, Tsao BP, La Cava A. Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus. Clin Immunol 2015. [Abstract] EPub

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
E-mail: Patrick-Gaffney@omrf.org

Ying-Yu Wu, Ph.D.
Research Assistant Member

Satish Pasula, Ph.D.
Associate Staff Scientist

Feng Daniel Wen
Associate Staff Scientist

Graham Wiley, Ph.D.
Associate Staff Scientist

Mandi Wiley, Ph.D.
Assistant Staff Scientist

Jennifer Kelly
Research Project Director

Kandice Tessneer, Ph.D.
Science Writer Specialist

Yao Fu, Ph.D.
Postdoctoral Fellow

Jim Warner, Ph.D.
Postdoctoral Fellow

Robert Kwapich
Research Technician

Melissa Bebak
Project Manager

James Robertson
Senior Research Assistant