A photo of Kenneth M. Kaufman.

Professor, UC Department of Pediatrics


Biography & Affiliation


I have always been interested in biology and computers. Genetics offers me the opportunity to combine both interests.

My team and I are interested in researching the genetics of complex diseases, including systemic lupus erythematosus or SLE (an autoimmune disease) and rheumatoid arthritis. In our research, we want to discover the type of genetic irregularities that raise the risk of disease or cause disease.

More specifically, we use trailblazing technologies, like next-generation DNA sequencing, to find variants that will increase the risk of disease or lead to conditions such as SLE. My colleagues and I want to uncover the systems these variants are responsible for changing. Finding these systems will assist us in developing new treatments for diseases.

We have created several bioinformatic pipelines meant for use as an assessment of whole exome and genome DNA data collections. These DNA data sets have been used in a clinical setting as well as in various research projects locally and nationally.

Our team, in collaboration with more than 75 partners, works to identify the genetics of several diseases that include cancer and immunological, developmental and neurological factors.

I have more than 25 years’ experience in biomedical informatics and I began working at Cincinnati Children’s Hospital in 2011. My research has been published in respected journals, such as Nature Genetics, Genes and Immunity, Human Molecular Genetics and Journal of Allergy and Clinical Immunology.

Research Interests

Genetics; bio-informatics

Academic Affiliation

Professor, UC Department of Pediatrics

Research Divisions

Biomedical Informatics


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


Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis. Kawai, VK; Shi, M; Feng, Q; Chung, CP; Liu, G; Cox, NJ; Jarvik, GP; Lee, MT M; Hebbring, SJ; Harley, JB; et al. Arthritis and Rheumatology. 2020; 72:1483-1492.

Complement genes contribute sex-biased vulnerability in diverse disorders. Kamitaki, N; Sekar, A; Handsaker, RE; de Rivera, H; Tooley, K; Morris, DL; Taylor, KE; Whelan, CW; Tombleson, P; Loohuis, LM O; et al. Nature: New biology. 2020; 582:577-581.

P136 EPSTEIN-BARR VIRUS TRANSCRIPTION CO-FACTORS BIND TO MANY INFLAMMATORY BOWEL DISEASE RISK LOCI. Emadi, B; Carter, M; Eswar, S; Chen, X; Laurynenka, V; Parameswaran, S; Kaufman, KM; Namjou, B; Kottyan, LC; Weirauch, M; et al. Gastroenterology. 2020; 158:s49-s50.

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.