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.

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 The Merrick Award for Outstanding Research

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.

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.

Recent Publications

Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, Beresford MW, Biesecker LG, Black GM, Rene C, Eliaou JF, Fabien N, Ranchin B, Cochat P, Gaffney PM, Rozenberg F, Lebon P, Malcus C, Crow YJ, Brognard J, Bonnefoy N. Protein kinase C delta deficiency causes mendelian systemic lupus erythematosus with B-cell defective apoptosis and hyperproliferation. Arthritis Rheum 2013. [Abstract] EPub

* Ramos PS, Oates JC, Kamen DL, Williams AH, Gaffney PM, Kelly JA, Kaufman KM, Kimberly RP, Niewold TB, Jacob CO, Tsao BP, Alarcón GS, Brown EE, Edberg JC, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, James JA, Guthridge JM, Merrill JT, Boackle SA, Freedman BI, Scofield RH, Stevens AM, Vyse TJ, Criswell LA, Moser KL, Alarcón-Riquelme ME, Langefeld CD, Harley JB, Gilkeson GS. Variable Association of Reactive Intermediate Genes with Systemic Lupus Erythematosus in Populations with Different African Ancestry. J Rheumatol 2013. [Abstract] EPub

Hinks A, Cobb J, Marion MC, Prahalad S, Sudman M, Bowes J, Martin P, Comeau ME, Sajuthi S, Andrews R, Brown M, Chen WM, Concannon P, Deloukas P, Edkins S, Eyre S, Gaffney PM, Guthery SL, Guthridge JM, Hunt SE, James JA, Keddache M, Moser KL, Nigrovic PA, Onengut-Gumuscu S, Onslow ML, Rose CD, Rich SS, Steel KJ, Wakeland EK, Wallace CA, Wedderburn LR, Woo P, Boston Children's JIA Registry, British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Childhood Arthritis Prospective Study (CAPS), Childhood Arthritis Response to Medication Study (CHARMS), German Society for Pediatric Rheumatology (GKJR), JIA Gene Expression Study, NIAMS JIA Genetic Registry, TREAT Study, United Kingdom Juvenile Idiopathic Arthritis Genetics Consortium (UKJIAGC), Bohnsack JF, Haas JP, Glass DN, Langefeld CD, Thomson W, Thompson SD. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet 2013. [Abstract] EPub

Selected Publications

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
E-mail: Patrick-Gaffney@omrf.org

Graham Wiley, Ph.D.
Associate Staff Scientist

Feng Daniel Wen
Associate Staff Scientist

Jim Davis, Ph.D.
Postdoctoral Fellow

Shaofeng Wang, Ph.D.
Postdoctoral Fellow

James Robertson
Senior Research Assistant