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A photo of Kenneth M. Kaufman.

Professor, UC Department of Pediatrics


Biography & Affiliation


A large portion of Dr. Kaufman's research career has been on the genetics of systemic lupus erythematsus. Their work has screened 10's of thousands of lupus cases and controls with millions of polymorphic markers. This work has resulted in the identification, replication and/or fine mapping of over 70 genetic associations with systemic lupus erythematsus.

Recently, they have taken advantage of next generation DNA sequencing to identify variants that directly cause disease. They have developed a number of bioinformatic pipelines that can be applied to any phenotype. These automated pipelines are part of the Cincinnati Analytical Suite for Sequencing Informatics (CASSI) which has been applied to more than 20 different diseases and provides a list of candidate causative variants that lead to disease.

Research Interests

Genetics; bio-informatics

Academic Affiliation

Professor, UC Department of Pediatrics


Biomedical Informatics


PhD: University of South Carolina, Columbia, SC, 1991.


Complete tracheal ring deformity a translational genomics approach to pathogenesis. Sinner, DI; Carey, B; Zgherea, D; Kaufman, KM; Leesman, L; Wood, RE; Rutter, MJ; de Alarcon, A; Elluru, RG; Harley, JB; et al. American Journal of Respiratory and Critical Care Medicine. 2019; 200:1267-1281.

Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis. Kottyan, LC; Maddox, A; Braxton, JR; Stucke, EM; Mukkada, V; Putnam, PE; Abonia, JP; Chehade, M; Wood, RA; Pesek, RD; et al. Genes and Immunity. 2019; 20:281-292.

Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. Hanscombe, KB; Morris, DL; Noble, JA; Dilthey, AT; Tombleson, P; Kaufman, KM; Comeau, M; Langefeld, CD; Alarcon-Riquelme, ME; Gaffney, PM; et al. Human Molecular Genetics. 2018; 27:3813-3824.

Genetic variants with gene regulatory effects are associated with diisocyanate-induced asthma. Bernstein, DI; Lummus, ZL; Kesavalu, B; Yao, J; Kottyan, L; Miller, D; Cartier, A; Cruz, M; Lemiere, C; Munoz, X; et al. Journal of Allergy and Clinical Immunology. 2018; 142:959-969.

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus. Patel, ZH; Lu, X; Miller, D; Forney, CR; Lee, J; Lynch, A; Schroeder, C; Parks, L; Magnusen, AF; Chen, X; et al. Human Molecular Genetics. 2018; 27:2392-2404.

Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity. Harley, JB; Chen, X; Pujato, M; Miller, D; Maddox, A; Forney, C; Magnusen, AF; Lynch, A; Chetal, K; Yukawa, M; et al. Nature Genetics. 2018; 50:699-707.

Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis. Sherrill, JD; Kiran, KC; Wang, X; Wen, T; Chamberlin, A; Stucke, EM; Collins, MH; Abonia, JP; Peng, Y; Wu, Q; et al. JCI insight. 2018; 3.

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. DiStasio, A; Driver, A; Sund, K; Donlin, M; Muraleedharan, RM; Pooya, S; Kline-Fath, B; Kaufman, KM; Prows, CA; Schorry, E; et al. Human Molecular Genetics. 2017; 26:4836-4848.

Transancestral mapping and genetic load in systemic lupus erythematosus. Langefeld, CD; Ainsworth, HC; Graham, DS C; Kelly, JA; Comeau, ME; Marion, MC; Howard, TD; Ramos, PS; Croker, JA; Morris, DL; et al. Nature Communications. 2017; 8.

Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study. Moore, KN; Tritchler, D; Kaufman, KM; Lankes, H; Quinn, MC J; Van Le, L; Berchuck, A; Backes, FJ; Tewari, KS; Lee, RB; et al. Gynecologic Oncology. 2017; 147:396-401.